Canonical Allele Identifier: PA2580421407
Gene: VPS13D HGNC NCBI

Linked Data

ClinVar Variation Id: 2100056
ClinVar RCV Id: RCV003025790
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060626.2:p.Cys267Ser
CA338457677
NM_018156.4:c.799T>A
CA338457684
NM_018156.4:c.800G>C