Allele Registry

Canonical Allele Identifier: PA2828413945

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242292

ClinVar RCV:

RCV000325835

RCV000567501

RCV000726912

RCV001079391

RCV004532850

ClinVar Variation:

238031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Glu1263Lys	CA049623 NM_001370404.1:c.3787G>A