Canonical Allele Identifier: PA2580424106
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2195500
ClinVar RCV Id: RCV002628718 RCV002647695
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Ala26Val
CA9138601
NM_020533.3:c.77C>T