Canonical Allele Identifier: PA2827005561
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 680371
ClinVar RCV Id: RCV000840146 RCV001202480 RCV002336738
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Glu1653Asp
CA054895
NM_001318827.2:c.4959G>C
CA394315083
NM_001318827.2:c.4959G>T