ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825577749
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
514715
ClinVar RCV Id:
RCV000604792
RCV000644420
RCV002258972
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Gln1756Arg
CA055149
NM_001114382.3:c.5267A>G