Canonical Allele Identifier: PA2827013188
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230458
ClinVar RCV Id: RCV000218035 RCV000644083 RCV003225044 RCV003997840
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Arg480Trp
CA10579879
NM_001318831.2:c.1438C>T