Allele Registry

Canonical Allele Identifier: PA319597

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190077

RCV000644198

RCV002453704

ClinVar Variation:

207784

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu1142Pro	CA319595 NM_000548.5:c.3425T>C