Allele Registry

Canonical Allele Identifier: PA2825963696

Gene: TWNK HGNC NCBI

ClinVar RCV:

RCV000020866

RCV002251876

ClinVar Variation:

4630

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157284.1:p.Ala318Thr	CA342356 NM_001163812.2:c.952G>A