Canonical Allele Identifier: PA2827000802
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_001305756.1:p.Ser281Phe
CA16614697
NM_001318827.2:c.842C>T