Allele Registry

Canonical Allele Identifier: PA2825646063

Gene: PAX6 HGNC NCBI

ClinVar RCV:

RCV000003636

RCV002512714

ClinVar Variation:

3471

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121084.1:p.Val126Asp	CA116224 NM_001127612.3:c.377T>A