Allele Registry

Canonical Allele Identifier: PA658681163

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477421

ClinVar RCV:

RCV000561137

RCV000685152

RCV004001147

ClinVar Variation:

486606

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser1346Leu	CA050248 NM_000548.5:c.4037C>T