Allele Registry

Canonical Allele Identifier: PA2580116289

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV002267440

RCV003512143

ClinVar Variation:

1697094

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1675Arg	CA394311261 NM_000548.5:c.5024C>G