ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827020877
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001887213
RCV002334832
ClinVar Variation:
1395605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Gln1668Glu
CA394313923
NM_001318832.2:c.5002C>G