Allele Registry

Canonical Allele Identifier: PA916043263

Gene: TSC1 HGNC NCBI

ClinVar Allele:

139108

ClinVar RCV:

RCV000122197

RCV000534056

RCV002321604

ClinVar Variation:

135369

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Gly936Ser	CA007215 NM_001362177.1:c.2806G>A