Canonical Allele Identifier: PA2827021121
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_001305761.1:p.Thr1724Ile
CA055164
NM_001318832.2:c.5171C>T