ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828501370
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1027456
ClinVar RCV Id:
RCV001647178
RCV001859245
RCV002286839
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361243.1:p.Tyr145Cys
CA374932881
NM_001374314.1:c.434A>G