Allele Registry

Canonical Allele Identifier: PA915986795

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000227461

RCV000270939

RCV000566627

RCV003998781

ClinVar Variation:

237728

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Asp273Glu	CA039098 NM_001162426.2:c.819T>G CA375369393 NM_001162426.2:c.819T>A