Allele Registry

Canonical Allele Identifier: PA2825573766

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000615980

RCV000688126

RCV002404637

RCV004002515

ClinVar Variation:

509382

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Ser592Asn	CA033474 NM_001114382.3:c.1775G>A