Canonical Allele Identifier: PA2828300608
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_001355847.1:p.Val165Asp
CA116224
NM_001368918.2:c.494T>A