ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573079566
Gene: SBF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
246374
ClinVar RCV Id:
RCV000237027
RCV000467056
RCV001094183
RCV000713000
RCV002356322
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373268.1:p.Ile1309Met
CA5881126
NM_001386339.1:c.3927C>G