Canonical Allele Identifier: PA2573277279
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1425965
ClinVar RCV Id: RCV001957542 RCV002561363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Lys46Arg
CA304894656
NM_020533.3:c.137A>G