Allele Registry

Canonical Allele Identifier: PA2829975668

Gene: TSC2 HGNC NCBI

ClinVar Allele:

374760

ClinVar RCV:

RCV000436141

RCV001359510

RCV002429378

RCV003996049

ClinVar Variation:

380717

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Ser716Phe	CA036848 NM_021055.3:c.2147C>T