Canonical Allele Identifier: PA2828499748
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 160074
ClinVar RCV Id: RCV000147710
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Asp224Glu
CA173644
NM_001374311.2:c.672C>A
CA374933939
NM_001374311.2:c.672C>G