Canonical Allele Identifier: PA2825322164
Gene: VPS13A HGNC NCBI
ClinVar RCV:
RCV000004946
ClinVar Variation:
4682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001018047.1:p.Ile90Lys
CA253246
NM_001018037.2:c.269T>A