Canonical Allele Identifier: PA2828502304
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207439
ClinVar RCV Id: RCV000189622 RCV000789013
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Arg515Ser
CA318890
NM_001374315.2:c.1543C>A