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.Lys493Asn	CA411544630 NM_001362951.2:c.1479G>T CA411544631 NM_001362951.2:c.1479G>C