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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:
CA2499216385
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
997762
ClinVar RCV Id:
RCV001293319
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10147644_10152768del , CM000665.2:g.10147644_10152768del
GRCh38
NC_000003.11:g.10189328_10194452del , CM000665.1:g.10189328_10194452del
GRCh37
NC_000003.10:g.10164328_10169452del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000696153.1:c.463+1008_*2803del
ENST00000256474.3:c.463+1008_*2803del
NM_000551.4:c.463+1008_*2803del
NM_001354723.2:c.*18-2143_*2999del
NM_198156.3:c.341-2143_*2803del
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