Canonical Allele Identifier: PA2828421795
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 238083
ClinVar RCV Id: RCV000234553 RCV000497390 RCV002347870
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.His1726Arg
CA10583346
NM_001370405.1:c.5177A>G