Canonical Allele Identifier: PA2828502325
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1299159

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Leu530Met
CA374939771
NM_001374315.2:c.1588C>A