Canonical Allele Identifier: PA2580424113
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2056124
ClinVar RCV Id: RCV002938397
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Pro52Ala
CA9138629
NM_020533.3:c.154C>G