Canonical Allele Identifier: PA2830315310
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 427100
ClinVar RCV Id: RCV000489122

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.Ser1787Ile
CA371872385
NM_152564.5:c.5360G>T