ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680623
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_000539.2:p.Arg505Gly
CA394326162
NM_000548.5:c.1513C>G