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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:
CA2499216377
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
997730
ClinVar RCV Id:
RCV001293287
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10145108_10153342del , CM000665.2:g.10145108_10153342del
GRCh38
NC_000003.11:g.10186792_10195026del , CM000665.1:g.10186792_10195026del
GRCh37
NC_000003.10:g.10161792_10170026del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000696153.1:c.341-1406_*3377del
ENST00000256474.3:c.341-1406_*3377del
NM_000551.4:c.341-1406_*3377del
NM_001354723.2:c.*17+2087_*3573del
NM_198156.3:c.340+2921_*3377del
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