Canonical Allele Identifier: PA658819973
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500603
ClinVar RCV Id: RCV000592611
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Val78Leu
CA304894700
NM_020533.3:c.232G>T
CA403153018
NM_020533.3:c.232G>C