Allele Registry

Canonical Allele Identifier: PA2827007436

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034648

RCV000054861

RCV000562486

RCV000989423

RCV004534722

ClinVar Variation:

41731

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Asp598Asn	CA016233 NM_001318829.2:c.1792G>A