ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825573700
Gene: TSC2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
466089
ClinVar RCV:
RCV000545413
RCV001012884
ClinVar Variation:
467892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107854.1:p.Thr577Ile
CA033165
NM_001114382.3:c.1730C>T