Canonical Allele Identifier: PA891858323
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 569030
ClinVar RCV Id: RCV000689558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Pro197Thr
CA304853325
NM_020533.3:c.589C>A