Canonical Allele Identifier: PA1139726073
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 893356
ClinVar RCV Id: RCV001131222
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065394.1:p.Arg419Trp
CA403087325
NM_020533.3:c.1255C>T