Canonical Allele Identifier: PA2828091546
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49629
ClinVar RCV Id: RCV000042891 RCV002513625
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.His597Arg
CA015754
NM_001363528.2:c.1790A>G