ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828502299
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1435356
ClinVar RCV Id:
RCV001984885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361244.1:p.Met514Lys
CA374939441
NM_001374315.2:c.1541T>A