Canonical Allele Identifier: PA2828497198
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 984865
ClinVar RCV Id: RCV001265419 RCV003588731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Cys549Arg
CA374939488
NM_001374306.2:c.1645T>C