ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645473038
Gene: SBF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246568
ClinVar RCV Id:
RCV000235333
RCV000303226
RCV001094187
RCV002365232
RCV001820788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_112224.1:p.Ser1252Cys
CA5881173
NM_030962.4:c.3754A>T