Allele Registry

Canonical Allele Identifier: PA264399

Gene: TSC2 HGNC NCBI

ClinVar Allele:

75827

ClinVar RCV:

RCV000055098

RCV000491308

ClinVar Variation:

64897

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu1061Pro	CA018665 NM_000548.5:c.3182T>C