ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916045723
Gene: SBF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51005
ClinVar RCV Id:
RCV000043693
RCV001252745
RCV002514182
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352748.1:p.Met418Val
CA143927
NM_001365819.1:c.1252A>G