Canonical Allele Identifier: PA263136
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50095
ClinVar RCV Id: RCV000043361 RCV000820413
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Leu1578Pro
CA020960
NM_000548.5:c.4733T>C