Canonical Allele Identifier: PA2827001789
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1386739
ClinVar RCV Id: RCV001905856

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ala570Gly
CA394272985
NM_001318827.2:c.1709C>G