ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828412814
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65065
ClinVar RCV Id:
RCV000055272
RCV000574785
RCV000533205
RCV001531839
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357333.1:p.Arg917Gln
CA018086
NM_001370404.1:c.2750G>A