Canonical Allele Identifier: PA2828497210
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1777718
ClinVar RCV Id: RCV002405879
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Gln555Lys
CA374939601
NM_001374306.2:c.1663C>A