Allele Registry

Canonical Allele Identifier: PA319243

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000726144

RCV001013102

RCV001079404

ClinVar Variation:

207610

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Thr592Met	CA029749 NM_000368.5:c.1775C>T