Allele Registry

Canonical Allele Identifier: PA916047347

Gene: PAX6 HGNC NCBI

ClinVar RCV:

RCV000033168

RCV003764654

RCV003883464

ClinVar Variation:

40090

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355840.1:p.Arg39Trp	CA261246 NM_001368911.2:c.115C>T