ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828499535
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
856851
ClinVar RCV Id:
RCV001062406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361240.1:p.Val8_Lys11del
CA916083065
NM_001374311.2:c.23_34del