Canonical Allele Identifier: PA2580416885
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2143878
ClinVar RCV Id: RCV003062823
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060360.3:p.Phe1834Leu
CA371872520
NM_017890.5:c.5500T>C
CA371872525
NM_017890.5:c.5502T>A
CA371872526
NM_017890.5:c.5502T>G