Canonical Allele Identifier: PA2827011339
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 226045
ClinVar RCV Id: RCV000211466 RCV000542869 RCV001580472 RCV002415885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val643Ile
CA036245
NM_001318829.2:c.1927G>A