Canonical Allele Identifier: PA2573228379
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1435356
ClinVar RCV Id: RCV001984885

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Met550Lys
CA374939441
NM_003165.6:c.1649T>A