ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827011490
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237996
ClinVar RCV Id:
RCV000230556
RCV001091442
RCV002429101
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Tyr808Cys
CA10583311
NM_001318829.2:c.2423A>G