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: PA2828300999

Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 372441

ClinVar RCV Id: RCV000413794 RCV000984424 RCV001388984 RCV002463362 RCV004529567

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355848.1:p.Arg247Trp	CA5933833 NM_001368919.2:c.739C>T