ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827003429
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207745
ClinVar RCV Id:
RCV000468447
RCV001721236
RCV001020274
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Asp1063Val
CA319512
NM_001318827.2:c.3188A>T