Canonical Allele Identifier: PA318893
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207440
ClinVar RCV Id: RCV000189623 RCV000415936 RCV001265516 RCV001420235 RCV001071757 RCV003126574
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Arg551Cys
CA318892
NM_003165.6:c.1651C>T