ClinGen Allele Registry
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Canonical Allele Identifier:
PA263138
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
59258
ClinVar RCV:
RCV000043362
RCV002326765
RCV002514176
ClinVar Variation:
50096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Leu1584Arg
CA020979
NM_000548.5:c.4751T>G