Canonical Allele Identifier: PA2828497216
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1299159

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Leu563Met
CA374939771
NM_001374306.2:c.1687C>A