Allele Registry

Canonical Allele Identifier: PA2827003425

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190077

RCV000644198

RCV002453704

ClinVar Variation:

207784

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu1062Pro	CA319595 NM_001318827.2:c.3185T>C