Canonical Allele Identifier: PA2830316273
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2154393
ClinVar RCV Id: RCV003081764
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.Trp2449Cys
CA371875741
NM_152564.5:c.7347G>T
CA371875742
NM_152564.5:c.7347G>C