Canonical Allele Identifier: PA2828294243
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1385887

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355821.1:p.Pro186_Gln188del
CA5933863
NM_001368892.2:c.556_564del