Allele Registry

Canonical Allele Identifier: PA915960189

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV001023747

RCV001061035

RCV001772198

RCV004004640

ClinVar Variation:

825558

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Trp1740Ser	CA394314459 NM_000548.5:c.5219G>C