Canonical Allele Identifier: PA2830317993
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2067515
ClinVar RCV Id: RCV002966488

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.Gly3995Arg
CA182335525
NM_152564.5:c.11983G>A
CA371796311
NM_152564.5:c.11983G>C