Canonical Allele Identifier: PA2828301952
Gene: PAX6 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355851.1:p.Gln369_Ter370insLysLysLysLysLysLysLysLysGlyLysGluIleLeuCys
CA5933631
NM_001368922.2:c.1108T>A