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: PA916060249

Gene: ATP6V0A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 5154

ClinVar RCV Id: RCV000005461 RCV000244134 RCV001512758 RCV001807628

ClinVar Variation Id: 2188863

ClinVar RCV Id: RCV002620552

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_570856.2:p.Met580Thr	CA117293 NM_130841.3:c.1739T>C CA2580077501 NM_130841.3:c.1739_1740delinsCA