Canonical Allele Identifier: PA2828497200
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2795876
ClinVar RCV Id: RCV003753892

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Ala550Thr
CA374939511
NM_001374306.2:c.1648G>A