Allele Registry

Canonical Allele Identifier: PA2827013644

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042848

RCV001250499

ClinVar Variation:

49587

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Leu608Ser	CA017395 NM_001318831.2:c.1823T>C