Allele Registry

Canonical Allele Identifier: PA319319

Gene: TSC1 HGNC NCBI

ClinVar Allele:

202464

ClinVar RCV:

RCV000189860

RCV001079866

RCV002256098

RCV003996858

ClinVar Variation:

207641

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Glu1044Lys	CA319317 NM_000368.5:c.3130G>A