Canonical Allele Identifier: PA645411323
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 383137
ClinVar RCV Id: RCV001105999 RCV001105997 RCV001105998 RCV000726623 RCV001106000 RCV001848766 RCV004533016 RCV003993959
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_068602.2:p.Tyr537His
CA5653294
NM_021830.4:c.1609T>C