Canonical Allele Identifier: PA2828497328
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 985221
ClinVar RCV Id: RCV001266002

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361236.1:p.Val90Asp
CA374931809
NM_001374307.2:c.269T>A