Allele Registry

Canonical Allele Identifier: PA2825964031

Gene: TWNK HGNC NCBI

ClinVar RCV:

RCV000278667

RCV000312773

RCV000352301

RCV000406261

RCV001336025

RCV001722382

RCV001848044

RCV004021053

ClinVar Variation:

279716

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157285.1:p.Lys230Gln	CA5653396 NM_001163813.2:c.688A>C