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.[Asn548_Met550delinsLys;Tyr554_Gln558del;Asn560_Val568del;Val570_Ser574delinsThrArg]
CA1139661169
NM_001374314.1:c.1644del