Canonical Allele Identifier: PA2830317983
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 1217350
ClinVar RCV Id: RCV001588013
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.Met3986Ile
CA4825380
NM_152564.5:c.11958G>C
CA371796191
NM_152564.5:c.11958G>A
CA371796194
NM_152564.5:c.11958G>T