Allele Registry

Canonical Allele Identifier: PA2828301440

Gene: PAX6 HGNC NCBI

ClinVar RCV:

RCV000003642

RCV000327291

RCV000762838

RCV000785745

RCV000805010

ClinVar Variation:

3474

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355849.1:p.Gln447_Ter448insLeuLysLysLysLysLysLysLysGlyLysGluIleLeuCys	CA252798 NM_001368920.2:c.1343A>T