Canonical Allele Identifier: PA2580416969
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2109164
ClinVar RCV Id: RCV003031784

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060360.3:p.Ser2442Phe
CA371875541
NM_017890.5:c.7325C>T