Allele Registry

Canonical Allele Identifier: PA262952

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043100

RCV001249601

ClinVar Variation:

49834

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1743Gly	CA022207 NM_000548.5:c.5227C>G