Allele Registry

Canonical Allele Identifier: PA2825439180

Gene: TSC2 HGNC NCBI

ClinVar Allele:

324634

ClinVar RCV:

RCV000340816

RCV000475549

RCV002338902

ClinVar Variation:

318335

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Asp1577Asn	CA053097 NM_001077183.3:c.4729G>A