Allele Registry

Canonical Allele Identifier: PA916043239

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000482696

ClinVar Variation:

421409

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Leu70Pro	CA16618779 NM_001362177.1:c.209T>C