Allele Registry

Canonical Allele Identifier: PA916022829

Gene: TSC2 HGNC NCBI

ClinVar Allele:

75827

ClinVar RCV:

RCV000055098

RCV000491308

ClinVar Variation:

64897

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Leu981Pro	CA018665 NM_001318827.2:c.2942T>C