Allele Registry

Canonical Allele Identifier: PA2825437328

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043324

RCV001042713

RCV002321537

RCV003313034

ClinVar Variation:

50058

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Ser1051Asn	CA018827 NM_001077183.3:c.3152G>A