Canonical Allele Identifier: PA2499286379
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1028660
ClinVar RCV Id: RCV001329760

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Phe262Ser
CA403084441
NM_020533.3:c.785T>C