Allele Registry

Canonical Allele Identifier: PA214874

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000041999

RCV000055012

RCV000422201

RCV000988278

RCV001010542

RCV001165673

ClinVar Variation:

48752

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Thr417Ile	CA004523 NM_000368.5:c.1250C>T