Canonical Allele Identifier: PA2828500076
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2739570
ClinVar RCV Id: RCV003589070
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Gln544Pro
CA374939607
NM_001374311.2:c.1631A>C