Allele Registry

Canonical Allele Identifier: PA347336

Gene: MCOLN1 HGNC NCBI

ClinVar RCV:

RCV000192301

RCV003886385

ClinVar Variation:

208022

HGVS (amino-acid)	Matching Registered Transcripts
NP_065394.1:p.Phe408del	CA347335 NM_020533.3:c.1222_1224del