Allele Registry

Canonical Allele Identifier: PA645434349

Gene: TSC2 HGNC NCBI

ClinVar Allele:

374841

ClinVar RCV:

RCV000441035

RCV001086097

RCV001119330

RCV002328977

ClinVar Variation:

388436

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro1441Ser	CA16607171 NM_000548.5:c.4321C>T