Allele Registry

Canonical Allele Identifier: PA2825577707

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_001107854.1:p.Pro1747Ser	CA055015 NM_001114382.3:c.5239C>T