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: MCOLN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_065394.1:p.His575Gln	CA403092066 NM_020533.3:c.1725T>A CA403092069 NM_020533.3:c.1725T>G