Canonical Allele Identifier: PA2828420792
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468095
ClinVar RCV Id: RCV000542919 RCV001764575 RCV002341363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.His1463Tyr
CA394302760
NM_001370405.1:c.4387C>T