Allele Registry

Canonical Allele Identifier: PA658804903

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644409

RCV001026437

RCV003328614

ClinVar Variation:

536104

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Asn248Ser	CA056283 NM_000548.5:c.743A>G