Allele Registry

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.

Canonical Allele Identifier: PA2830430750

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 526669

ClinVar RCV Id: RCV002343199 RCV000631263 RCV003459501

ClinVar Variation Id: 1392637

ClinVar RCV Id: RCV001896326 RCV003303309

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_937799.1:p.Lys130Asn	CA351756203 NM_198156.3:c.390G>C CA351756204 NM_198156.3:c.390G>T