Allele Registry

Canonical Allele Identifier: PA645434444

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000226937

RCV000422566

RCV002315686

RCV003390985

RCV003998828

ClinVar Variation:

238048

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser1466Leu	CA051016 NM_000548.5:c.4397C>T