Canonical Allele Identifier: PA915983161
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 810416
ClinVar RCV Id: RCV000999213
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Leu233Pro
CA374933837
NM_003165.6:c.698T>C