Allele Registry

Canonical Allele Identifier: PA262763

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042816

RCV000565844

RCV000726579

RCV001082851

RCV003488361

RCV004541222

ClinVar Variation:

49556

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1369Trp	CA019949 NM_000548.5:c.4105C>T