Allele Registry

Canonical Allele Identifier: PA2828300505

Gene: PAX6 HGNC NCBI

ClinVar RCV:

RCV000598846

RCV002531115

ClinVar Variation:

503635

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355847.1:p.Val48Met	CA379959457 NM_001368918.2:c.142G>A