Allele Registry

Canonical Allele Identifier: PA2825439549

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043228

RCV003511996

ClinVar Variation:

49961

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1676Pro	CA022224 NM_001077183.3:c.5027G>C