Canonical Allele Identifier: PA1139726003
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 894563

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Val258Ile
CA9138892
NM_020533.3:c.772G>A