Canonical Allele Identifier: PA2830315347
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_689777.3:p.Phe1809Leu
CA371872520
NM_152564.5:c.5425T>C
CA371872525
NM_152564.5:c.5427T>A
CA371872526
NM_152564.5:c.5427T>G