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_001349878.1:p.Cys492Ser	CA411544641 NM_001362949.2:c.1475G>C CA411544645 NM_001362949.2:c.1474T>A