Canonical Allele Identifier: PA2828301524
Gene: PAX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3470
ClinVar RCV Id: RCV000003635 RCV000984410 RCV001851621
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355850.1:p.Arg75Cys
CA116221
NM_001368921.2:c.223C>T