Canonical Allele Identifier: PA2828417287
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65281
ClinVar RCV Id: RCV000055502 RCV000760985
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu448Pro
CA014458
NM_001370405.1:c.1343T>C