Allele Registry

Canonical Allele Identifier: PA263001

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043177

RCV000478359

ClinVar Variation:

49910

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Asn1643His	CA021298 NM_000548.5:c.4927A>C