Canonical Allele Identifier: PA347440
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 208032
ClinVar RCV Id: RCV001193948 RCV001828013
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Cys166Phe
CA347439
NM_020533.3:c.497G>T