Allele Registry

Canonical Allele Identifier: PA105761

Gene: MCOLN1 HGNC NCBI

ClinVar RCV:

RCV000005442

RCV000727664

RCV003894792

ClinVar Variation:

5135

HGVS (amino-acid)	Matching Registered Transcripts
NP_065394.1:p.Asp362Tyr	CA340344 NM_020533.3:c.1084G>T