Allele Registry

Canonical Allele Identifier: PA242146

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000055001

RCV000724068

RCV001081160

RCV002316209

ClinVar Variation:

64810

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Leu978Val	CA007103 NM_000368.5:c.2932C>G