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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2497030002
Gene: RPE65
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1213917
ClinVar RCV Id:
RCV001591859
dbSNP Id:
rs2100818777
ERepo:
CA2497030002/MONDO:0100368/120
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.68439082del , CM000663.2:g.68439082del
GRCh38
NC_000001.10:g.68904765del , CM000663.1:g.68904765del
GRCh37
NC_000001.9:g.68677353del
NCBI36
NG_008472.1:g.15879del
NG_008472.2:g.15879del
Transcript Alleles
HGVS
Amino-acid change
ENST00000262340.6:c.859del
ENST00000262340.5:c.859del
NM_000329.2:c.859del
XM_017002027.1:c.583del
NM_000329.3:c.859del
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