Canonical Allele Identifier: PA2828501821
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 856851
ClinVar RCV Id: RCV001062406
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Val22_Lys25del
CA916083065
NM_001374315.2:c.65_76del