Canonical Allele Identifier: PA2499286371
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1209621
ClinVar RCV Id: RCV001578709

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Gly21Glu
CA403152397
NM_020533.3:c.62G>A