Allele Registry

Canonical Allele Identifier: PA645432552

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000433607

RCV003512044

ClinVar Variation:

387803

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu843Pro	CA16606932 NM_000548.5:c.2528T>C