Canonical Allele Identifier: PA2828413825
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486637
ClinVar RCV Id: RCV000571806 RCV000706819 RCV002266988 RCV002491143 RCV004001158
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1224Cys
CA276750224
NM_001370404.1:c.3670C>T