ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827007005
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000543764
RCV002256373
RCV003999254
ClinVar Variation:
467878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305758.1:p.Arg456Gly
CA394326162
NM_001318829.2:c.1366C>G