Allele Registry

Canonical Allele Identifier: PA658659628

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000541596

RCV002395390

ClinVar Variation:

466031

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Val497Leu	CA200889097 NM_000368.5:c.1489G>C CA375365415 NM_000368.5:c.1489G>T