Canonical Allele Identifier: PA2829936767
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3227398
ClinVar RCV Id: RCV004524516
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.His292Arg
CA403085001
NM_020533.3:c.875A>G