Canonical Allele Identifier: PA2825963938
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_001157285.1:p.Tyr83His
CA5653294
NM_001163813.2:c.247T>C