Canonical Allele Identifier: PA247769
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 198886
ClinVar RCV Id: RCV000634098 RCV000710112 RCV001818444 RCV003982931 RCV002314673
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_689777.3:p.His328Arg
CA247762
NM_152564.5:c.983A>G