Canonical Allele Identifier: PA2828090609
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406116
ClinVar RCV Id: RCV000524092 RCV001080775 RCV002379425 RCV004000722
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ser318Phe
CA16614697
NM_001363528.2:c.953C>T