Canonical Allele Identifier: PA2828500058
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207439

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Arg537Ser
CA318890
NM_001374311.2:c.1609C>A