ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499292169
Gene: SBF2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_112224.1:p.Val1084Ile
CA379630799
NM_030962.4:c.3250G>A