Canonical Allele Identifier: PA2825324641
Gene: VPS13A HGNC NCBI

Linked Data

ClinVar Variation Id: 367395
ClinVar RCV Id: RCV000310297 RCV000710282 RCV001729570 RCV003912583
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001018048.1:p.Arg1962Cys
CA5092885
NM_001018038.3:c.5884C>T