Allele Registry

Canonical Allele Identifier: PA2825438775

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529761

ClinVar RCV:

RCV000644320

RCV002334136

RCV004004037

ClinVar Variation:

536044

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1462Trp	CA276754888 NM_001077183.3:c.4384C>T