Canonical Allele Identifier: PA645436511
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405968
ClinVar RCV Id: RCV000471005 RCV000562164 RCV000610568 RCV003392272 RCV004000682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Thr1780Ile
CA055164
NM_000548.5:c.5339C>T