Allele Registry

Canonical Allele Identifier: PA658659334

Gene: TSC1 HGNC NCBI

ClinVar RCV:

RCV000561767

RCV000697551

RCV004001133

ClinVar Variation:

486562

HGVS (amino-acid)	Matching Registered Transcripts
NP_000359.1:p.Asp15Asn	CA375375386 NM_000368.5:c.43G>A