Canonical Allele Identifier: PA2741965116
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2504664
ClinVar RCV Id: RCV003234255 RCV003946470
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060360.3:p.Gln2484His
CA371875805
NM_017890.5:c.7452G>C
CA371875806
NM_017890.5:c.7452G>T