Allele Registry

Canonical Allele Identifier: PA099448

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000005412

RCV000042306

ClinVar Variation:

5105

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Leu180Pro	CA007706 NM_000368.5:c.539T>C