Allele Registry

Canonical Allele Identifier: PA2829983872

Gene: TSC2 HGNC NCBI

ClinVar Allele:

340865

ClinVar RCV:

RCV000340010

RCV000457441

RCV001545216

RCV002255364

RCV002298569

RCV004537798

ClinVar Variation:

318338

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Pro1727Ser	CA055015 NM_021055.3:c.5179C>T