ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830317695
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1364896
ClinVar RCV Id:
RCV001937566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689777.3:p.Arg3700Leu
CA371790411
NM_152564.5:c.11099G>T