Allele Registry

Canonical Allele Identifier: PA262706

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58652

ClinVar RCV:

RCV000042750

RCV001852889

RCV003441731

ClinVar Variation:

49490

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1497Thr	CA020509 NM_000548.5:c.4489C>A