Allele Registry

Canonical Allele Identifier: PA2828416968

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000564908

RCV000802991

ClinVar Variation:

486650

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Lys351Arg	CA028047 NM_001370405.1:c.1052A>G