ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828095508
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468157
ClinVar RCV Id:
RCV000535476
RCV001821554
RCV002350300
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Ser1708Gly
CA055089
NM_001363528.2:c.5122A>G