Allele Registry

Canonical Allele Identifier: PA2825919542

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000042274

RCV000189829

RCV000642032

RCV001019989

RCV004546423

ClinVar Variation:

49023

HGVS (amino-acid)	Matching Registered Transcripts
NP_001155898.1:p.Gly1107Ser	CA007317 NM_001162426.2:c.3319G>A