Allele Registry

Canonical Allele Identifier: PA155816

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000005409

RCV000005410

RCV000034607

RCV000054851

RCV000118692

RCV000129684

RCV000278906

ClinVar Variation:

5103

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.His732Tyr	CA006123 NM_000368.5:c.2194C>T