ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005208
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64868
ClinVar RCV Id:
RCV000055068
RCV000469641
RCV000563588
RCV001551734
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Val1570Ile
CA021497
NM_001318827.2:c.4708G>A