Canonical Allele Identifier: PA916075416
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 727013
ClinVar RCV Id: RCV000901293
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Arg236Gln
CA9138881
NM_020533.3:c.707G>A