ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020965
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_001305761.1:p.Arg1689Cys
CA054522
NM_001318832.2:c.5065C>T