Canonical Allele Identifier: PA2573277396
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1472250
ClinVar RCV Id: RCV001969230
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.His409Asp
CA403087067
NM_020533.3:c.1225C>G