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.Glu541Asp
CA374939561
NM_001374311.2:c.1623G>C
CA374939562
NM_001374311.2:c.1623G>T