Allele Registry

Canonical Allele Identifier: PA658681250

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000548577

RCV000571084

RCV001546708

ClinVar Variation:

468098

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ile1518Val	CA051585 NM_000548.5:c.4552A>G