Canonical Allele Identifier: PA2828411489
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486688
ClinVar RCV Id: RCV000572824 RCV001509505 RCV000804218
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala552Thr
CA394268001
NM_001370404.1:c.1654G>A