ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827015026
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468061
ClinVar RCV Id:
RCV000544952
RCV001584296
RCV000764030
RCV003999303
RCV004024051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.Arg1111Gly
CA394299372
NM_001318831.2:c.3331A>G