Allele Registry

Canonical Allele Identifier: PA645432049

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000359958

RCV000560091

RCV002401434

RCV003324855

RCV004021647

ClinVar Variation:

318314

1779235

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser581Arg	CA033256 NM_000548.5:c.1743C>A CA394272742 NM_000548.5:c.1741A>C CA394272756 NM_000548.5:c.1743C>G