Allele Registry

Canonical Allele Identifier: PA249303

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000203097

RCV000567626

RCV001304571

RCV001705067

RCV003166723

RCV004537590

ClinVar Variation:

207673

1007392

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