Allele Registry

Canonical Allele Identifier: PA2828415392

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000462184

RCV001721233

RCV002336505

RCV003996873

RCV004539758

ClinVar Variation:

207693

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Asn1663Ser	CA054000 NM_001370404.1:c.4988A>G