Canonical Allele Identifier: PA2826475138
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 372441
ClinVar RCV Id: RCV000413794 RCV000984424 RCV001388984 RCV002463362 RCV004529567
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245391.1:p.Arg222Trp
CA5933833
NM_001258462.3:c.664C>T