Canonical Allele Identifier: PA2828411573
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467892
ClinVar RCV Id: RCV000545413 RCV001012884
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Thr577Ile
CA033165
NM_001370404.1:c.1730C>T