Allele Registry

Canonical Allele Identifier: PA2825646068

Gene: PAX6 HGNC NCBI

ClinVar RCV:

RCV000003635

RCV000984410

RCV001851621

ClinVar Variation:

3470

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121084.1:p.Arg128Cys	CA116221 NM_001127612.3:c.382C>T