This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Ser240Arg
CA374933957
NM_001374314.1:c.718A>C
CA374933966
NM_001374314.1:c.720C>A
CA374933968
NM_001374314.1:c.720C>G