Allele Registry

Canonical Allele Identifier: PA323952

Gene: TWNK HGNC NCBI

ClinVar RCV:

RCV000283282

RCV000338208

RCV000374204

RCV000377740

RCV000871398

RCV001847877

RCV004530167

ClinVar Variation:

214180

HGVS (amino-acid)	Matching Registered Transcripts
NP_068602.2:p.Arg682His	CA323951 NM_021830.4:c.2045G>A