ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830315667
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
642509
ClinVar RCV Id:
RCV000795987
RCV003955509
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689777.3:p.Ala2016Val
CA4823933
NM_152564.5:c.6047C>T