Canonical Allele Identifier: PA2828499735
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 530543
ClinVar RCV Id: RCV000636447
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Ser214Phe
CA374933760
NM_001374311.2:c.641C>T