Allele Registry

Canonical Allele Identifier: PA2825957064

Gene: TSC1 HGNC NCBI

ClinVar Allele:

459043

ClinVar RCV:

RCV000567937

RCV000988275

ClinVar Variation:

466072

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155899.1:p.Tyr710His	CA032032 NM_001162427.2:c.2128T>C