Canonical Allele Identifier: PA2828497190
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1435356
ClinVar RCV Id: RCV001984885

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Met547Lys
CA374939441
NM_001374306.2:c.1640T>A