Allele Registry

Canonical Allele Identifier: PA2825957119

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000456582

RCV000568606

RCV001167710

RCV001538625

RCV004001888

ClinVar Variation:

411208

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Leu724Phe	CA16612447 NM_001162427.2:c.2170C>T