Canonical Allele Identifier: PA2827014294
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49566
ClinVar RCV Id: RCV000042826

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Trp816Arg
CA018659
NM_001318831.2:c.2446T>C
CA394285514
NM_001318831.2:c.2446T>A