Canonical Allele Identifier: PA2828498769
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207431
ClinVar RCV Id: RCV000189614 RCV000417024 RCV000636419 RCV001332690 RCV001265293 RCV004020295
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Arg392Cys
CA318875
NM_001374309.2:c.1174C>T