Canonical Allele Identifier: PA347440
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208032

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Cys166Phe
CA347439
NM_020533.3:c.497G>T