Canonical Allele Identifier: PA2828497473
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 833998
ClinVar RCV Id: RCV001034530
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361236.1:p.Glu246Lys
CA374934219
NM_001374307.2:c.736G>A