ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827020879
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001987304
ClinVar Variation:
1436299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305761.1:p.Gln1668Lys
CA394313908
NM_001318832.2:c.5002C>A