Canonical Allele Identifier: PA2828498777
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212327
ClinVar RCV Id: RCV000193990
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Tyr397His
CA207851
NM_001374309.2:c.1189T>C