Canonical Allele Identifier: PA2573093325
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 1315327
ClinVar RCV Id: RCV001774577 RCV003772054
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060360.3:p.Phe1837Leu
CA371872540
NM_017890.5:c.5509T>C
CA371872545
NM_017890.5:c.5511T>A
CA371872546
NM_017890.5:c.5511T>G