Allele Registry

Canonical Allele Identifier: PA162578

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000122195

RCV000545661

RCV001707532

RCV002321603

RCV003997360

ClinVar Variation:

135368

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Thr1047Ile	CA007195 NM_000368.5:c.3140C>T