Canonical Allele Identifier: PA2828501463
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 160070

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.His245Arg
CA173637
NM_001374314.1:c.734A>G