Allele Registry

Canonical Allele Identifier: PA915987402

Gene: TSC1 HGNC NCBI

ClinVar Allele:

475029

ClinVar RCV:

RCV000574780

RCV000605673

RCV001068166

ClinVar Variation:

486574

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Met953Thr	CA035603 NM_001162427.2:c.2858T>C