Canonical Allele Identifier: PA2580416970
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 2091761
ClinVar RCV Id: RCV003015767
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060360.3:p.Ser2450Arg
CA183041705
NM_017890.5:c.7350C>A
CA371875588
NM_017890.5:c.7348A>C
CA371875594
NM_017890.5:c.7350C>G