Canonical Allele Identifier: PA2828301519
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3471
ClinVar RCV Id: RCV000003636 RCV002512714
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355850.1:p.Val73Asp
CA116224
NM_001368921.2:c.218T>A