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: PA2830430604

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 223227

ClinVar RCV Id: RCV000208792 RCV000226031 RCV000567560 RCV000679043

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_937799.1:p.Cys121Trp	CA357016 NM_198156.3:c.363C>G