Allele Registry

Canonical Allele Identifier: PA916043228

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042305

RCV000122198

RCV000164135

RCV000228124

RCV000724965

RCV001165738

RCV003964895

ClinVar Variation:

49053

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Val57Ile	CA007701 NM_001362177.1:c.169G>A