Allele Registry

Canonical Allele Identifier: PA645435646

Gene: TSC2 HGNC NCBI

ClinVar Allele:

401020

ClinVar RCV:

RCV000658430

RCV001086881

RCV002257695

ClinVar Variation:

406062

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Met1721Val	CA054307 NM_000548.5:c.5161A>G