Canonical Allele Identifier: PA2828502319
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1777718
ClinVar RCV Id: RCV002405879
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Gln522Lys
CA374939601
NM_001374315.2:c.1564C>A