Canonical Allele Identifier: PA1139725874
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 810631
ClinVar RCV Id: RCV001030782
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Thr77Met
CA9138644
NM_020533.3:c.230C>T