Allele Registry

Canonical Allele Identifier: PA2827013930

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58757

ClinVar RCV:

RCV000042856

RCV000336828

ClinVar Variation:

49595

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Phe697Ser	CA017895 NM_001318831.2:c.2090T>C