Canonical Allele Identifier: PA2828415745
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 449819
ClinVar RCV Id: RCV001023976 RCV001204908 RCV001696827
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Tyr1744Cys
CA055219
NM_001370404.1:c.5231A>G