Allele Registry

Canonical Allele Identifier: PA2828095370

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043228

RCV003511996

ClinVar Variation:

49961

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg1677Pro	CA022224 NM_001363528.2:c.5030G>C