Canonical Allele Identifier: PA2580417184
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2067515
ClinVar RCV Id: RCV002966488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060360.3:p.Gly4020Arg
CA182335525
NM_017890.5:c.12058G>A
CA371796311
NM_017890.5:c.12058G>C