ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828498779
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1465798
ClinVar RCV Id:
RCV001959347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361238.1:p.Leu400Ser
CA374937152
NM_001374309.2:c.1199T>C