Canonical Allele Identifier: PA2825359515
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207405

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001027392.1:p.Pro94Leu
CA318832
NM_001032221.6:c.281C>T