Canonical Allele Identifier: PA2580424108
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2412966
ClinVar RCV Id: RCV003109981

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Pro33Leu
CA9138610
NM_020533.3:c.98C>T