ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580417137
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1981686
ClinVar RCV Id:
RCV002751610
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060360.3:p.Glu3737Lys
CA371790569
NM_017890.5:c.11209G>A