Allele Registry

Canonical Allele Identifier: PA2827003254

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043324

RCV001042713

RCV002321537

RCV003313034

ClinVar Variation:

50058

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ser1015Asn	CA018827 NM_001318827.2:c.3044G>A