Allele Registry

Canonical Allele Identifier: PA319363

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189907

RCV000525436

RCV001015274

RCV003462291

RCV003996866

ClinVar Variation:

207671

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val806Met	CA319361 NM_000548.5:c.2416G>A