Allele Registry

Canonical Allele Identifier: PA105804

Gene: MCOLN1 HGNC NCBI

ClinVar RCV:

RCV000192300

ClinVar Variation:

208021

HGVS (amino-acid)	Matching Registered Transcripts
NP_065394.1:p.Thr232Pro	CA347334 NM_020533.3:c.694A>C