This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: OPHN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002538.1:p.Glu80Asp
CA413432431
NM_002547.3:c.240A>C
CA413432432
NM_002547.3:c.240A>T