Canonical Allele Identifier: PA2741901992
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2834882
ClinVar RCV Id: RCV003754485
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Gln250Arg
CA374934089
NM_003165.6:c.749A>G