Canonical Allele Identifier: PA2828501042
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2070980
ClinVar RCV Id: RCV002959235
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Ile407Leu
CA374937077
NM_001374313.2:c.1219A>C