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: PA2826940299

Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3472

ClinVar RCV Id: RCV000003637 RCV000984384

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001297088.1:p.Gly64Val	CA116227 NM_001310159.1:c.191G>T