Allele Registry

Canonical Allele Identifier: PA262729

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042778

RCV001852890

ClinVar Variation:

49518

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Tyr1571Cys	CA020940 NM_000548.5:c.4712A>G