ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825576172
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_001107854.1:p.Arg1332Gly
CA394299372
NM_001114382.3:c.3994A>G