Allele Registry

Canonical Allele Identifier: PA107798

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042507

RCV000229678

RCV002044253

RCV003343620

ClinVar Variation:

49248

1348312

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Asp1084Glu	CA018744 NM_000548.5:c.3252C>G CA394286142 NM_000548.5:c.3252C>A