Canonical Allele Identifier: PA2828499607
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 581449
ClinVar RCV Id: RCV000705274

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Leu73Val
CA374931693
NM_001374311.2:c.217C>G