Allele Registry

Canonical Allele Identifier: PA2828421322

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76147

ClinVar RCV:

RCV000055434

RCV000989440

ClinVar Variation:

65215

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ser1610Pro	CA021390 NM_001370405.1:c.4828T>C