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_598397.1:p.Ser500Arg	CA411544582 NM_133642.5:c.1500C>G CA411544583 NM_133642.5:c.1500C>A CA411544587 NM_133642.5:c.1498A>C