ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825573996
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1715424
ClinVar RCV Id:
RCV002301218
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Glu650Ala
CA394273557
NM_001114382.3:c.1949A>C