Canonical Allele Identifier: PA2828287935
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 214180
ClinVar RCV Id: RCV000338208 RCV000283282 RCV000377740 RCV000374204 RCV000871398 RCV001847877 RCV004530167
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355204.1:p.Arg228His
CA323951
NM_001368275.1:c.683G>A