Allele Registry

Canonical Allele Identifier: PA164916

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58759

ClinVar RCV:

RCV000042858

RCV000129683

RCV000227547

RCV001703935

ClinVar Variation:

49597

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg718Pro	CA016844 NM_000548.5:c.2153G>C