ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891850591
Gene: SBF2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_112224.1:p.Ala694Val
CA5881652
NM_030962.4:c.2081C>T