Allele Registry

Canonical Allele Identifier: PA2828298041

Gene: PAX6 HGNC NCBI

ClinVar RCV:

RCV000496060

RCV000635401

ClinVar Variation:

430972

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355839.1:p.His34Pro	CA379960126 NM_001368910.2:c.101A>C CA2695213607 NM_001368910.2:c.101_102delinsCA