Canonical Allele Identifier: PA2828418131
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2178101
ClinVar RCV Id: RCV002588518 RCV004068834
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val679Ala
CA394274557
NM_001370405.1:c.2036T>C