Allele Registry

Canonical Allele Identifier: PA2828293387

Gene: PAX6 HGNC NCBI

ClinVar RCV:

RCV000003642

RCV000327291

RCV000762838

RCV000785745

RCV000805010

ClinVar Variation:

3474

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355818.1:p.Gln422_Ter423insLeuLysLysLysLysLysLysLysGlyLysGluIleLeuCys	CA252798 NM_001368889.2:c.1268A>T