Canonical Allele Identifier: PA2827013904
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49586
ClinVar RCV Id: RCV000042847 RCV000201152 RCV002433527
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ala689Val
CA017841
NM_001318831.2:c.2066C>T