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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:
CA2499216382
Gene: VHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
997752
ClinVar RCV Id:
RCV001293309
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.10146465_10152780del , CM000665.2:g.10146465_10152780del
GRCh38
NC_000003.11:g.10188149_10194464del , CM000665.1:g.10188149_10194464del
GRCh37
NC_000003.10:g.10163149_10169464del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000696153.1:c.341-49_*2815del
ENST00000256474.3:c.341-49_*2815del
NM_000551.4:c.341-49_*2815del
NM_001354723.2:c.*18-3322_*3011del
NM_198156.3:c.341-3322_*2815del
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