ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828500739
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
581449
ClinVar RCV Id:
RCV000705274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361242.1:p.Leu87Val
CA374931693
NM_001374313.2:c.259C>G