Canonical Allele Identifier: PA2828287937
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 279716
ClinVar RCV Id: RCV000278667 RCV000312773 RCV000352301 RCV000406261 RCV001722382 RCV001848044 RCV004021053 RCV001336025
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355204.1:p.Lys230Gln
CA5653396
NM_001368275.1:c.688A>C