Allele Registry

Canonical Allele Identifier: PA2828060521

Gene: TSC1 HGNC NCBI

ClinVar Allele:

459043

ClinVar RCV:

RCV000567937

RCV000988275

ClinVar Variation:

466072

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Tyr640His	CA032032 NM_001362177.1:c.1918T>C