Allele Registry

Canonical Allele Identifier: PA2825918558

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000005409

RCV000005410

RCV000034607

RCV000054851

RCV000118692

RCV000129684

RCV000278906

ClinVar Variation:

5103

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.His731Tyr	CA006123 NM_001162426.2:c.2191C>T