Canonical Allele Identifier: PA2828499250
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420158
ClinVar RCV Id: RCV000485374 RCV001851183
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361239.1:p.Ala283Thr
CA16618741
NM_001374310.2:c.847G>A