Allele Registry

Canonical Allele Identifier: PA2825963747

Gene: TWNK HGNC NCBI

ClinVar RCV:

RCV000508920

RCV000517894

RCV000626956

ClinVar Variation:

426106

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157284.1:p.Arg374Gln	CA378209878 NM_001163812.2:c.1121G>A