ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005019
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65243
ClinVar RCV Id:
RCV000055464
RCV000590930
RCV002513723
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.His1517Arg
CA021150
NM_001318827.2:c.4550A>G