ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828496782
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361235.1:p.Glu129_Ile132del
CA2573053093
NM_001374306.2:c.386_397del