Canonical Allele Identifier: PA2829819807
Gene: VPS13D HGNC NCBI
ClinVar RCV:
RCV003025790
ClinVar Variation:
2100056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056193.2:p.Cys267Ser
CA338457677
NM_015378.4:c.799T>A
CA338457684
NM_015378.4:c.800G>C