Canonical Allele Identifier: PA2828496844
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161607
ClinVar RCV Id: RCV000149143
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Lys193Arg
CA174437
NM_001374306.2:c.578A>G