Allele Registry

Canonical Allele Identifier: PA916023906

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189907

RCV000525436

RCV001015274

RCV003462291

RCV003996866

ClinVar Variation:

207671

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Val817Met	CA319361 NM_001318832.2:c.2449G>A