Allele Registry

Canonical Allele Identifier: PA916043289

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000213461

RCV000799771

RCV001562491

ClinVar Variation:

233013

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Lys978Arg	CA10578822 NM_001362177.1:c.2933A>G