Allele Registry

Canonical Allele Identifier: PA2829979397

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043035

RCV000190021

RCV000190880

RCV002453340

RCV002490595

RCV004537174

ClinVar Variation:

49770

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Arg1157Trp	CA019313 NM_021055.3:c.3469C>T