ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827012520
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64996
ClinVar RCV Id:
RCV000055200
RCV000688733
RCV001011980
RCV001085948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg305Gln
CA015034
NM_001318831.2:c.914G>A