Allele Registry

Canonical Allele Identifier: PA2827021074

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000340010

RCV000457441

RCV001545216

RCV002255364

RCV002298569

RCV004537798

ClinVar Variation:

318338

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Pro1714Ser	CA055015 NM_001318832.2:c.5140C>T