Allele Registry

Canonical Allele Identifier: PA658801505

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000641965

RCV002397230

RCV003126889

RCV004003952

ClinVar Variation:

534412

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Pro591Ser	CA375363652 NM_000368.5:c.1771C>T