ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827009658
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65304
ClinVar RCV Id:
RCV000055526
RCV002287358
RCV004537247
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ser1383Thr
CA020540
NM_001318829.2:c.4148G>C