ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827004612
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
535877
ClinVar RCV Id:
RCV000644095
RCV002331186
RCV004003991
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Ser1404Tyr
CA051496
NM_001318827.2:c.4211C>A