ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828413195
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
406094
ClinVar RCV Id:
RCV000463902
RCV000571612
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Ser1041Leu
CA16614705
NM_001370404.1:c.3122C>T