Allele Registry

Canonical Allele Identifier: PA2827020594

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76147

ClinVar RCV:

RCV000055434

RCV000989440

ClinVar Variation:

65215

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Ser1597Pro	CA021390 NM_001318832.2:c.4789T>C