Allele Registry

Canonical Allele Identifier: PA2825957145

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000567937

RCV000988275

ClinVar Variation:

466072

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Tyr760His	CA032032 NM_001162426.2:c.2278T>C