Allele Registry

Canonical Allele Identifier: PA2828413081

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190014

RCV000562972

RCV000766975

RCV001085820

RCV003462294

RCV003996892

RCV004528972

ClinVar Variation:

207741

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Glu1005Lys	CA319501 NM_001370404.1:c.3013G>A