Canonical Allele Identifier: PA2828410548
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49921
ClinVar RCV Id: RCV000043188 RCV000523170
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Leu264Pro
CA022990
NM_001370404.1:c.791T>C