Allele Registry

Canonical Allele Identifier: PA658804948

Gene: TSC2 HGNC NCBI

ClinVar Allele:

505172

ClinVar RCV:

RCV000644119

RCV001010952

RCV001719001

RCV004002563

ClinVar Variation:

513426

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu448Val	CA394322581 NM_000548.5:c.1342C>G