Canonical Allele Identifier: PA2830316219
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 588073
ClinVar RCV Id: RCV001340873 RCV002312793
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.Ser2421Cys
CA183041702
NM_152564.5:c.7262C>G