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_001349880.1:p.Val522Leu	CA411544448 NM_001362951.2:c.1564G>T CA411544450 NM_001362951.2:c.1564G>C