Canonical Allele Identifier: PA2828091337
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318313
ClinVar RCV Id: RCV000298128 RCV000461333 RCV000765263 RCV001012444 RCV003482249
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Pro541Arg
CA031797
NM_001363528.2:c.1622C>G