ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573082589
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003156.1:p.Leu348Pro
CA374936122
NM_003165.6:c.1043T>C