Canonical Allele Identifier: PA2828501457
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 160074
ClinVar RCV Id: RCV000147710

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Asp238Glu
CA173644
NM_001374314.1:c.714C>A
CA374933939
NM_001374314.1:c.714C>G