Canonical Allele Identifier: PA2828499033
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1404414
ClinVar RCV Id: RCV001901635
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361239.1:p.Ser69Phe
CA374931672
NM_001374310.2:c.206C>T