Allele Registry

Canonical Allele Identifier: PA2828417044

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000445030

ClinVar Variation:

390324

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Gln373His	CA16606925 NM_001370405.1:c.1119G>C CA394318483 NM_001370405.1:c.1119G>T