Canonical Allele Identifier: PA2830316274
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 1354121
ClinVar RCV Id: RCV001887731

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.Trp2449Arg
CA183041732
NM_152564.5:c.7345T>C
CA371875735
NM_152564.5:c.7345T>A