Allele Registry

Canonical Allele Identifier: PA262989

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043163

RCV000478154

ClinVar Variation:

49896

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Cys244Arg	CA022889 NM_000548.5:c.730T>C