Allele Registry

Canonical Allele Identifier: PA645413041

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000444035

RCV000564089

RCV001088285

RCV004000499

ClinVar Variation:

388596

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Pro56Leu	CA029375 NM_000368.5:c.167C>T