Allele Registry

Canonical Allele Identifier: PA2825576530

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000934634

RCV001022397

RCV001427433

ClinVar Variation:

207684

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Thr1439Ser	CA051006 NM_001114382.3:c.4316C>G CA394301849 NM_001114382.3:c.4315A>T