Allele Registry

Canonical Allele Identifier: PA2827006641

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000445030

ClinVar Variation:

390324

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Gln324His	CA16606925 NM_001318829.2:c.972G>C CA394318483 NM_001318829.2:c.972G>T