Allele Registry

Canonical Allele Identifier: PA2826940239

Gene: PAX6 HGNC NCBI

ClinVar RCV:

RCV000317485

RCV000635404

RCV001388985

RCV003401272

ClinVar Variation:

289849

1075401

HGVS (amino-acid)	Matching Registered Transcripts
NP_001297088.1:p.Gly18Arg	CA10606574 NM_001310159.1:c.52G>C CA379959645 NM_001310159.1:c.52G>A