Canonical Allele Identifier: PA2830317771
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 1377749
ClinVar RCV Id: RCV001880814

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.Met3778Ile
CA4825211
NM_152564.5:c.11334G>A
CA371792189
NM_152564.5:c.11334G>C
CA371792192
NM_152564.5:c.11334G>T