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: PA2825835355

Gene: ATP13A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1221

ClinVar RCV Id: RCV000001280 RCV001851533 RCV002251851

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001135445.1:p.Gly499Arg