Canonical Allele Identifier: PA262717
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49498
ClinVar Variation Id: 1390361
ClinVar RCV Id: RCV001889529

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gln1503His
CA020576
NM_000548.5:c.4509G>T
CA394302743
NM_000548.5:c.4509G>C