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_001361242.1:p.Asp224Glu
CA374933705
NM_001374313.2:c.672C>A
CA374933707
NM_001374313.2:c.672C>G