ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825182067
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1406765
ClinVar RCV Id:
RCV001915976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Gly654Arg
CA394273606
NM_000548.5:c.1960G>C