Canonical Allele Identifier: PA2828497045
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1367883
ClinVar RCV Id: RCV001932595

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Ile404Val
CA374937078
NM_001374306.2:c.1210A>G