Canonical Allele Identifier: PA2829978086
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49241
ClinVar RCV Id: RCV000042500 RCV000201071
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Arg989Pro
CA018497
NM_021055.3:c.2966G>C