Canonical Allele Identifier: PA2828293116
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 68469
ClinVar RCV Id: RCV000059340 RCV001200041
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355818.1:p.Gly51Val
CA145185
NM_001368889.2:c.152G>T