ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: SPTBN1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_842565.2:p.Tyr1290_Lys1319del
CA1030838048
NM_178313.3:c.3869dup