Allele Registry

Canonical Allele Identifier: PA658801495

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000641984

RCV001012234

ClinVar Variation:

534427

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Ser524Phe	CA375365031 NM_000368.5:c.1571C>T