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
ENSP00000486814.1:p.Leu22_Lys147del
CA375176207
ENST00000626333.1:c.65T>A
CA375176209
ENST00000626333.1:c.65T>G