Allele Registry

Canonical Allele Identifier: PA658680503

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000564908

RCV000802991

ClinVar Variation:

486650

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Lys351Arg	CA028047 NM_000548.5:c.1052A>G