Allele Registry

Canonical Allele Identifier: PA916043256

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042326

RCV000641989

ClinVar Variation:

49073

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Phe95Ser	CA007933 NM_001362177.1:c.284T>C