Canonical Allele Identifier: PA2829421251
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2055422
ClinVar RCV Id: RCV002947244

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Gly568Arg
CA374939824
NM_003165.6:c.1702G>C