Allele Registry

Canonical Allele Identifier: PA658659832

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000536602

RCV002438383

RCV003459235

RCV003999213

ClinVar Variation:

466109

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Cys996Gly	CA375368037 NM_000368.5:c.2986T>G