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: STXBP1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361235.1:p.[Met249_Ile256del;Asn258_Leu277del]
CA173640
NM_001374306.2:c.745_746del