Canonical Allele Identifier: PA2825438470
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49293
ClinVar RCV Id: RCV000042552 RCV000562910 RCV000713934 RCV001079491
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Pro1383Arg
CA020293
NM_001077183.3:c.4148C>G