Allele Registry

Canonical Allele Identifier: PA645432119

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000463315

RCV001013872

RCV004000685

ClinVar Variation:

405983

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Lys657Gln	CA035326 NM_000548.5:c.1969A>C