ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830067285
Gene: SBF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2108417
ClinVar RCV Id:
RCV003034163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_112224.1:p.Ala1800Asp
CA379630256
NM_030962.4:c.5399C>A