Allele Registry

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: LARGE1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349882.1:p.Thr319Ser	CA411545123 NM_001362953.2:c.956C>G CA411545125 NM_001362953.2:c.955A>T