Allele Registry

Canonical Allele Identifier: PA105815

Gene: MCOLN1 HGNC NCBI

ClinVar Allele:

204295

ClinVar RCV:

RCV000194491

RCV001266563

RCV004525834

ClinVar Variation:

208033

HGVS (amino-acid)	Matching Registered Transcripts
NP_065394.1:p.Val446Leu	CA347430 NM_020533.3:c.1336G>T CA403088071 NM_020533.3:c.1336G>C