Allele Registry

Canonical Allele Identifier: PA2825956409

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000474044

RCV001013134

RCV002489077

ClinVar Variation:

411213

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Val543Glu	CA16612455 NM_001162427.2:c.1628T>A