Canonical Allele Identifier: PA2828421733
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486648
ClinVar RCV Id: RCV000569715 RCV001327371 RCV002260649
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala1711Pro
CA394315130
NM_001370405.1:c.5131G>C