Canonical Allele Identifier: PA2828091184
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467876
ClinVar RCV Id: RCV000559522

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ser494Pro
CA394325846
NM_001363528.2:c.1480T>C