Allele Registry

Canonical Allele Identifier: PA2828060817

Gene: TSC1 HGNC NCBI

ClinVar Allele:

397141

ClinVar RCV:

RCV000466864

RCV002436452

ClinVar Variation:

411268

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Val774Ile	CA034261 NM_001362177.1:c.2320G>A