Canonical Allele Identifier: PA2829982119
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50096
ClinVar RCV Id: RCV000043362 RCV002326765 RCV002514176
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Leu1541Arg
CA020979
NM_021055.3:c.4622T>G