Allele Registry

Canonical Allele Identifier: PA645432967

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000319884

RCV000686655

RCV001551212

RCV002436165

ClinVar Variation:

318323

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Lys945Arg	CA10648020 NM_000548.5:c.2834A>G