Canonical Allele Identifier: PA2828301726
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 40090
ClinVar RCV Id: RCV000033168 RCV003764654 RCV003883464
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355851.1:p.Arg38Trp
CA261246
NM_001368922.2:c.112C>T