Canonical Allele Identifier: PA2573270962
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 1346725
ClinVar RCV Id: RCV002030161
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060360.3:p.His2924Gln
CA371776323
NM_017890.5:c.8772C>G
CA371776325
NM_017890.5:c.8772C>A