Canonical Allele Identifier: PA2499286372
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1042404
ClinVar RCV Id: RCV001346354 RCV003169686
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Pro30Leu
CA9138606
NM_020533.3:c.89C>T