ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645432983
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423627
ClinVar RCV Id:
RCV000480699
RCV000575219
RCV001087822
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Arg978Cys
CA042875
NM_000548.5:c.2932C>T