Canonical Allele Identifier: PA2828411662
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65334
ClinVar RCV Id: RCV000055558 RCV001824119
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.His597Tyr
CA015730
NM_001370404.1:c.1789C>T