Allele Registry

Canonical Allele Identifier: PA262345

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042274

RCV000189829

RCV000642032

RCV001019989

RCV004546423

ClinVar Variation:

49023

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Gly1108Ser	CA007317 NM_000368.5:c.3322G>A