Allele Registry

Canonical Allele Identifier: PA2827020955

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043228

RCV003511996

ClinVar Variation:

49961

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg1687Pro	CA022224 NM_001318832.2:c.5060G>C