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_001361240.1:p.[Tyr540_Val542del;Gln544_Lys569delinsArg]
CA2695211149
NM_001374311.2:c.1617del