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: PA2827926944

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 2228

ClinVar RCV Id: RCV000002316

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341652.1:p.Tyr112Asn	CA020273 NM_001354723.2:c.334T>A