Canonical Allele Identifier: PA2829974043
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467892
ClinVar RCV Id: RCV000545413 RCV001012884
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Thr577Ile
CA033165
NM_021055.3:c.1730C>T