Allele Registry

Canonical Allele Identifier: PA262974

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043146

RCV000189937

RCV000644309

RCV001023245

ClinVar Variation:

49880

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Asp1636Asn	CA021203 NM_000548.5:c.4906G>A CA3044590155 NM_000548.5:c.4906_4908delinsAAT