Allele Registry

Canonical Allele Identifier: PA2828300287

Gene: PAX6 HGNC NCBI

ClinVar RCV:

RCV000003635

RCV000984410

RCV001851621

ClinVar Variation:

3470

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355846.1:p.Arg128Cys	CA116221 NM_001368917.2:c.382C>T