Canonical Allele Identifier: PA2827008606
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406107
ClinVar RCV Id: RCV000462249 RCV000569265 RCV002056709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser1040Leu
CA046484
NM_001318829.2:c.3119C>T