Canonical Allele Identifier: PA249303
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207673
ClinVar RCV Id: RCV000203097 RCV000567626 RCV001705067 RCV004537590
ClinVar Variation Id: 1007392
ClinVar RCV Id: RCV001304571 RCV003166723
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Phe904Leu
CA041007
NM_000548.5:c.2712C>G
CA394279475
NM_000548.5:c.2710T>C
CA394279487
NM_000548.5:c.2712C>A