ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139730352
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
845768
ClinVar RCV Id:
RCV001048897
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060360.3:p.Glu2445Gly
CA371875558
NM_017890.5:c.7334A>G