Canonical Allele Identifier: PA1139762337
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 861088
ClinVar RCV Id: RCV001067527
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.Asp996Glu
CA4823128
NM_152564.5:c.2988T>A
CA371865684
NM_152564.5:c.2988T>G