Canonical Allele Identifier: PA658681200
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468075
ClinVar RCV Id: RCV000554219 RCV001022193 RCV001532308
ClinVar Variation Id: 468076
ClinVar RCV Id: RCV000530101 RCV002330899 RCV003318590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Gly1425Arg
CA050746
NM_000548.5:c.4273G>A
CA394300730
NM_000548.5:c.4273G>C