Canonical Allele Identifier: PA2825323362
Gene: VPS13A HGNC NCBI

Linked Data

ClinVar Variation Id: 367413
ClinVar RCV Id: RCV000368612 RCV000861046 RCV001579965 RCV003922655
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001018047.1:p.Ile2447Thr
CA5093361
NM_001018037.2:c.7340T>C