Canonical Allele Identifier: PA2826475808
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_001245393.1:p.Arg208Trp
CA5933833
NM_001258464.2:c.622C>T