Canonical Allele Identifier: PA2828496757
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 975912
ClinVar RCV Id: RCV001253047
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Ala102Val
CA374931798
NM_001374306.2:c.305C>T