ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827004355
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50124
ClinVar RCV Id:
RCV000043391
RCV000543604
RCV001022275
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.Arg1335Gln
CA020250
NM_001318827.2:c.4004G>A