Canonical Allele Identifier: PA2828502156
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212327
ClinVar RCV Id: RCV000193990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Tyr375His
CA207851
NM_001374315.2:c.1123T>C