Canonical Allele Identifier: PA2827016181
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65289
ClinVar RCV Id: RCV000055511 RCV000163808 RCV000189940 RCV000585252 RCV001081308 RCV004537246
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Glu1435Lys
CA021570
NM_001318831.2:c.4303G>A