Canonical Allele Identifier: PA916023226
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49212
ClinVar RCV Id: RCV000042470 RCV000055051 RCV000589638 RCV000575144 RCV001084150 RCV001729369
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Ala95Val
CA017545
NM_001318832.2:c.284C>T