Canonical Allele Identifier: PA2828499207
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1092919
ClinVar RCV Id: RCV001412897
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361239.1:p.Asp248Glu
CA374934251
NM_001374310.2:c.744T>A
CA374934252
NM_001374310.2:c.744T>G