Allele Registry

Canonical Allele Identifier: PA319429

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189974

RCV000754678

RCV000812345

RCV002257481

RCV003462292

RCV003996880

ClinVar Variation:

207710

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu361Val	CA319427 NM_000548.5:c.1081C>G