Allele Registry

Canonical Allele Identifier: PA108918

Gene: TWNK HGNC NCBI

ClinVar RCV:

RCV000508722

ClinVar Variation:

426104

HGVS (amino-acid)	Matching Registered Transcripts
NP_068602.2:p.Gln458His	CA378210724 NM_021830.4:c.1374G>C CA378210725 NM_021830.4:c.1374G>T