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
ENSP00000490613.1:p.Lys225Asn
CA374933720
ENST00000637953.1:c.675G>T
CA374933722
ENST00000637953.1:c.675G>C