Allele Registry

Canonical Allele Identifier: PA658805079

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644231

RCV002331191

ClinVar Variation:

535982

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1417Trp	CA050704 NM_000548.5:c.4249C>T