Canonical Allele Identifier: PA2580421418
Gene: VPS13D HGNC NCBI

Linked Data

ClinVar Variation Id: 1938926
ClinVar RCV Id: RCV002646596 RCV003167566
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060626.2:p.Arg347Cys
CA601407
NM_018156.4:c.1039C>T