Canonical Allele Identifier: PA2827013090
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65307
ClinVar RCV Id: RCV000055529 RCV000122212 RCV000234257 RCV000564486 RCV001703965
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Lys458Thr
CA016374
NM_001318831.2:c.1373A>C