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
ENSP00000490674.2:p.Met120Leu
CA374932175
ENST00000637060.2:c.358A>C
CA374932177
ENST00000637060.2:c.358A>T