Canonical Allele Identifier: PA916024053
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_001305761.1:p.Arg999Pro
CA018497
NM_001318832.2:c.2996G>C