Canonical Allele Identifier: PA2573228293
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1391166
ClinVar RCV Id: RCV001910931
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Ile176Phe
CA374933095
NM_003165.6:c.526A>T