Canonical Allele Identifier: PA2830317774
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 361096
ClinVar RCV Id: RCV000263082 RCV000513155 RCV001252625 RCV002450932 RCV003418080
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.Val3780Leu
CA4825212
NM_152564.5:c.11338G>T
CA371792214
NM_152564.5:c.11338G>C