Allele Registry

Canonical Allele Identifier: PA2828059713

Gene: TSC1 HGNC NCBI

ClinVar Allele:

459110

ClinVar RCV:

RCV000560409

RCV000573643

RCV001574705

RCV003999188

ClinVar Variation:

466024

HGVS (amino-acid)	Matching Registered Transcripts
NP_001349106.1:p.Leu318Val	CA028025 NM_001362177.1:c.952C>G