Allele Registry

Canonical Allele Identifier: PA2828059046

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000564302

RCV001308278

ClinVar Variation:

486592

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Gln28Glu	CA375373395 NM_001362177.1:c.82C>G