Allele Registry

Canonical Allele Identifier: PA2828301764

Gene: PAX6 HGNC NCBI

ClinVar RCV:

RCV000003636

RCV002512714

ClinVar Variation:

3471

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355851.1:p.Val73Asp	CA116224 NM_001368922.2:c.218T>A