ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658680672
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
467892
ClinVar RCV Id:
RCV000545413
RCV001012884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000539.2:p.Thr577Ile
CA033165
NM_000548.5:c.1730C>T