ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827012860
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467896
ClinVar RCV Id:
RCV000536893
RCV002404479
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305760.1:p.His400Tyr
CA033559
NM_001318831.2:c.1198C>T