ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645431853
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000394048
RCV000570041
RCV001089419
ClinVar Variation:
283532
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Phe298Ser
CA056651
NM_000548.5:c.893T>C