Canonical Allele Identifier: PA2499254920
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1005420
ClinVar RCV Id: RCV001302286
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Phe92del
CA1879905999
NM_001374312.2:c.274_276del