ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825439590
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000644101
RCV002334131
RCV003459535
RCV004003994
ClinVar Variation:
535883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.Gln1685Glu
CA394314782
NM_001077183.3:c.5053C>G