Allele Registry

Canonical Allele Identifier: PA916043266

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000468565

RCV000815344

RCV001018981

RCV003153637

ClinVar Variation:

411214

658507

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Phe938Leu	CA036094 NM_001362177.1:c.2814C>G CA375367134 NM_001362177.1:c.2814C>A CA375367142 NM_001362177.1:c.2812T>C