Canonical Allele Identifier: PA2827001690
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65084
ClinVar RCV Id: RCV000055294 RCV000544349 RCV000567865
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Arg548His
CA015651
NM_001318827.2:c.1643G>A