Canonical Allele Identifier: PA2828502025
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 984824
ClinVar RCV Id: RCV001265292
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Leu231dup
CA1139661186
NM_001374315.2:c.690_692dup