Allele Registry

Canonical Allele Identifier: PA645411265

Gene: TWNK HGNC NCBI

ClinVar RCV:

RCV000497430

RCV000508711

RCV001332412

ClinVar Variation:

426102

HGVS (amino-acid)	Matching Registered Transcripts
NP_068602.2:p.Pro335Thr	CA378209644 NM_021830.4:c.1003C>A