Allele Registry

Canonical Allele Identifier: PA2828060848

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000574197

RCV000641971

ClinVar Variation:

486563

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Arg787Trp	CA034396 NM_001362177.1:c.2359C>T