Canonical Allele Identifier: PA2827012333
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41727
ClinVar RCV Id: RCV000034644 RCV000054865 RCV000569820 RCV001083058
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ala247Val
CA014447
NM_001318831.2:c.740C>T