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: PA2827926637

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 959877

ClinVar RCV Id: RCV001233308 RCV002484277

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341652.1:p.Gly44Arg	CA351748058 NM_001354723.2:c.130G>C