ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827011750
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
571585
ClinVar RCV Id:
RCV000692769
RCV002325386
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Ser953Cys
CA394285144
NM_001318829.2:c.2858C>G