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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:
CA120600
Gene: MT-CO3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9654
ClinVar RCV Id:
RCV000010289
RCV000010290
RCV003985255
dbSNP Id:
rs267606612
MyVariant Identifiers:
chrMT:g.9487_9501del (hg38)
PubMed:
PMID:8630495
ERepo:
CA120600/MONDO:0044970/014
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.9487_9501del , J01415.2:m.9487_9501del
GRCh38
Transcript Alleles
HGVS
Amino-acid change
ENST00000362079.2:c.281_295del
ENSP00000354982.2:p.Phe94Ter
Search 100 bp 5'
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