Canonical Allele Identifier: PA2825645968
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 430901
ClinVar RCV Id: RCV000603782

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121084.1:p.Arg44Pro
CA379959478
NM_001127612.3:c.131G>C