Allele Registry

Canonical Allele Identifier: PA2827007124

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401446

ClinVar RCV:

RCV000477560

RCV002255385

RCV004000705

ClinVar Variation:

406036

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Pro494Ser	CA16615046 NM_001318829.2:c.1480C>T