Canonical Allele Identifier: PA2580524242
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2189412
ClinVar RCV Id: RCV002607339
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.Ile1000Thr
CA4823130
NM_152564.5:c.2999T>C