Allele Registry

Canonical Allele Identifier: PA915987521

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000229859

RCV001589171

RCV002321855

RCV003390983

ClinVar Variation:

237716

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Ser991Asn	CA10582622 NM_001162427.2:c.2972G>A