Canonical Allele Identifier: PA2825436404
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 536065
ClinVar RCV Id: RCV000644353 RCV001558093 RCV002422327 RCV004004042
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Arg749Trp
CA037721
NM_001077183.3:c.2245C>T