Canonical Allele Identifier: PA2828497050
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064621
ClinVar RCV Id: RCV001726526
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Gly414Arg
CA374937186
NM_001374306.2:c.1240G>C