Canonical Allele Identifier: PA658805073
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535968
ClinVar RCV Id: RCV000644212 RCV002325262
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Leu1347Pro
CA394299288
NM_000548.5:c.4040T>C