Canonical Allele Identifier: PA2580424179
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2041828
ClinVar RCV Id: RCV002903276
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.His280Tyr
CA9138923
NM_020533.3:c.838C>T