ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580417147
Gene: VPS13B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1983711
ClinVar RCV Id:
RCV002800082
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060360.3:p.Ala3787Thr
CA371791979
NM_017890.5:c.11359G>A