Canonical Allele Identifier: PA2828500246
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207418
ClinVar RCV Id: RCV000189600 RCV000796165 RCV001003592 RCV002272167 RCV002345682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Arg176Gln
CA318852
NM_001374312.2:c.527G>A