Canonical Allele Identifier: PA2829974252
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_066399.2:p.His597Arg
CA015754
NM_021055.3:c.1790A>G