Allele Registry

Canonical Allele Identifier: PA2828094444

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58652

ClinVar RCV:

RCV000042750

RCV001852889

RCV003441731

ClinVar Variation:

49490

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Pro1431Thr	CA020509 NM_001363528.2:c.4291C>A