Allele Registry

Canonical Allele Identifier: PA264562

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055306

RCV003512006

ClinVar Variation:

65095

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu1548Pro	CA020803 NM_000548.5:c.4643T>C