Canonical Allele Identifier: PA2825963755
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 162048
ClinVar RCV Id: RCV000149470 RCV000290037 RCV000305281 RCV000345001 RCV000403533 RCV002516006 RCV002516005
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157284.1:p.Arg391His
CA174962
NM_001163812.2:c.1172G>A