Allele Registry

Canonical Allele Identifier: PA2825963846

Gene: TWNK HGNC NCBI

ClinVar RCV:

RCV000020865

RCV000199894

ClinVar Variation:

4627

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157284.1:p.Tyr508Cys	CA324445 NM_001163812.2:c.1523A>G