ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825360239
Gene: STXBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027392.1:p.Arg464Gly
CA374937753
NM_001032221.6:c.1390C>G