Allele Registry

Canonical Allele Identifier: PA915987460

Gene: TSC1 HGNC NCBI

ClinVar Allele:

459004

ClinVar RCV:

RCV000532264

RCV001018500

RCV001821552

ClinVar Variation:

466118

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Arg976Trp	CA035767 NM_001162427.2:c.2926C>T