Canonical Allele Identifier: PA2828501200
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1803078
ClinVar RCV Id: RCV002466375
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Ala553Pro
CA374939513
NM_001374313.2:c.1657G>C