Allele Registry

Canonical Allele Identifier: PA658660954

Gene: TWNK HGNC NCBI

ClinVar RCV:

RCV000521964

ClinVar Variation:

450033

HGVS (amino-acid)	Matching Registered Transcripts
NP_068602.2:p.Gln338His	CA378209670 NM_021830.4:c.1014G>C CA378209671 NM_021830.4:c.1014G>T