Canonical Allele Identifier: PA2827012379
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49660
ClinVar RCV Id: RCV000042922 RCV000122206 RCV000130880 RCV000204918 RCV000989417
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ala260Thr
CA014629
NM_001318831.2:c.778G>A