Canonical Allele Identifier: PA2827011291
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406009
ClinVar RCV Id: RCV000467991 RCV000603190 RCV002411434 RCV003392273 RCV004000694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val596Ile
CA034565
NM_001318829.2:c.1786G>A