Canonical Allele Identifier: PA2825435449
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50195
ClinVar RCV Id: RCV000043464 RCV000482403
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Leu466Arg
CA014742
NM_001077183.3:c.1397T>G