Canonical Allele Identifier: PA2828496670
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 960026
ClinVar RCV Id: RCV001233475
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Lys21del
CA375176085
NM_001374306.2:c.58A>T
CA375176092
NM_001374306.2:c.61A>T
CA1879898349
NM_001374306.2:c.61_63del