Allele Registry

Canonical Allele Identifier: PA2827000988

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000445030

ClinVar Variation:

390324

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Gln336His	CA16606925 NM_001318827.2:c.1008G>C CA394318483 NM_001318827.2:c.1008G>T