Canonical Allele Identifier: PA2828415655
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2679334
ClinVar RCV Id: RCV003466464

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Val1724Leu
CA394315356
NM_001370404.1:c.5170G>C
CA394315357
NM_001370404.1:c.5170G>T