Allele Registry

Canonical Allele Identifier: PA2828298316

Gene: PAX6 HGNC NCBI

ClinVar RCV:

RCV000003642

RCV000327291

RCV000762838

RCV000785745

RCV000805010

ClinVar Variation:

3474

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355839.1:p.Gln503_Ter504insLeuLysLysLysLysLysLysLysGlyLysGluIleLeuCys	CA252798 NM_001368910.2:c.1511A>T