Canonical Allele Identifier: PA658805072
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535925
ClinVar RCV Id: RCV000644155 RCV001021583
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1329Cys
CA049839
NM_000548.5:c.3985C>T