Allele Registry

Canonical Allele Identifier: PA645414157

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000233178

RCV000561979

RCV001705063

RCV003996857

ClinVar Variation:

207638

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Arg976Gln	CA319309 NM_001162427.2:c.2927G>A