Allele Registry

Canonical Allele Identifier: PA2828059899

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000641984

RCV001012234

ClinVar Variation:

534427

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Ser403Phe	CA375365031 NM_001362177.1:c.1208C>T