ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439560
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
405943
ClinVar RCV Id:
RCV000595657
RCV000768353
RCV001085143
RCV001023772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Arg1678Cys
CA054522
NM_001077183.3:c.5032C>T