ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828498344
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207440
ClinVar RCV Id:
RCV000189623
RCV000415936
RCV001265516
RCV001420235
RCV001071757
RCV003126574
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361237.1:p.Arg537Cys
CA318892
NM_001374308.2:c.1609C>T