Allele Registry

Canonical Allele Identifier: PA2825957070

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042182

RCV000130869

RCV000189820

RCV000270998

RCV000713909

RCV001083830

ClinVar Variation:

48931

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Asn711Ser	CA006241 NM_001162427.2:c.2132A>G