ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829980258
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2064694
ClinVar RCV Id:
RCV002928875
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Lys1302Glu
CA394299259
NM_021055.3:c.3904A>G