Canonical Allele Identifier: PA2828500283
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 984824
ClinVar RCV Id: RCV001265292
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Leu217dup
CA1139661186
NM_001374312.2:c.648_650dup