Allele Registry

Canonical Allele Identifier: PA2827020826

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59093

ClinVar RCV:

RCV000043198

RCV000201077

ClinVar Variation:

49931

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg1657Pro	CA021846 NM_001318832.2:c.4970G>C