Canonical Allele Identifier: PA2828497303
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1404414
ClinVar RCV Id: RCV001901635
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361236.1:p.Ser69Phe
CA374931672
NM_001374307.2:c.206C>T