Canonical Allele Identifier: PA2825322879
Gene: VPS13A HGNC NCBI

Linked Data

ClinVar Variation Id: 448864
ClinVar RCV Id: RCV000517261 RCV000605550 RCV001580041
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001018047.1:p.Tyr1548Cys
CA5092598
NM_001018037.2:c.4643A>G