Allele Registry

Canonical Allele Identifier: PA658659478

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000558926

RCV000566027

RCV003476286

ClinVar Variation:

466148

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Ala186Thr	CA375372741 NM_000368.5:c.556G>A