Canonical Allele Identifier: PA2828501747
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207438

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Arg536His
CA318888
NM_001374314.1:c.1607G>A