Canonical Allele Identifier: PA2828497890
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 581449
ClinVar RCV Id: RCV000705274

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361237.1:p.Leu73Val
CA374931693
NM_001374308.2:c.217C>G