Allele Registry

Canonical Allele Identifier: PA2827011986

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000445030

ClinVar Variation:

390324

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Gln173His	CA16606925 NM_001318831.2:c.519G>C CA394318483 NM_001318831.2:c.519G>T