Allele Registry

Canonical Allele Identifier: PA264371

Gene: TSC2 HGNC NCBI

ClinVar Allele:

75797

ClinVar RCV:

RCV000055068

RCV000469641

RCV000563588

RCV001551734

ClinVar Variation:

64868

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1673Ile	CA021497 NM_000548.5:c.5017G>A