Allele Registry

Canonical Allele Identifier: PA645417971

Gene: MCOLN1 HGNC NCBI

ClinVar Allele:

415671

ClinVar RCV:

RCV000489236

RCV000985193

ClinVar Variation:

426811

HGVS (amino-acid)	Matching Registered Transcripts
NP_065394.1:p.Val446Met	CA9139117 NM_020533.3:c.1336G>A