Canonical Allele Identifier: PA2828501729
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 511119
ClinVar RCV Id: RCV000604912 RCV003753138
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Ala517Thr
CA374939018
NM_001374314.1:c.1549G>A