Canonical Allele Identifier: PA1139725907
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 893314
ClinVar RCV Id: RCV001131106
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Ala138Val
CA9138733
NM_020533.3:c.413C>T