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: PA2827926770

Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 648755

ClinVar RCV Id: RCV000803557 RCV002442677

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341652.1:p.Ile75Met	CA351749213 NM_001354723.2:c.225C>G