Allele Registry

Canonical Allele Identifier: PA262529

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58409

ClinVar RCV:

RCV000042506

RCV002513616

ClinVar Variation:

49247

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Thr1071Arg	CA018689 NM_000548.5:c.3212C>G