ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829111769
Gene: SBF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
840713
ClinVar RCV Id:
RCV001042777
RCV002339214
RCV003396645
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373271.1:p.Ser1649Pro
CA5880790
NM_001386342.1:c.4945T>C