Canonical Allele Identifier: PA658804878
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535927
ClinVar RCV Id: RCV000644157 RCV002422324 RCV004004003
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Val67Ile
CA035477
NM_000548.5:c.199G>A