Canonical Allele Identifier: PA2827001494
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207718
ClinVar RCV Id: RCV000189983 RCV000802377 RCV001012313 RCV003996884
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Glu495Lys
CA319449
NM_001318827.2:c.1483G>A