Canonical Allele Identifier: PA2573277341
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1433051
ClinVar RCV Id: RCV001982164
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Arg236Trp
CA9138880
NM_020533.3:c.706C>T