ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829977780
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000189913
RCV000807950
RCV001017697
ClinVar Variation:
207675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066399.2:p.Arg947Gly
CA043555
NM_021055.3:c.2839A>G