ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828093547
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1715087
ClinVar RCV Id:
RCV002299379
RCV002346581
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Leu1173Phe
CA394291933
NM_001363528.2:c.3517C>T