Canonical Allele Identifier: PA2828500624
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432846
ClinVar RCV Id: RCV000498493 RCV001066803
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Gly547Arg
CA5248594
NM_001374312.2:c.1639G>A
CA374939678
NM_001374312.2:c.1639G>C