Canonical Allele Identifier: PA2499233307
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1006099
ClinVar RCV Id: RCV001303092
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.His1769Gln
CA394315387
NM_000548.5:c.5307C>A
CA394315391
NM_000548.5:c.5307C>G