Canonical Allele Identifier: PA2828502081
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2554527
ClinVar RCV Id: RCV003308617
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Met288Val
CA374935807
NM_001374315.2:c.862A>G