Canonical Allele Identifier: PA2825963720
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 298500
ClinVar RCV Id: RCV000273839 RCV000296339 RCV000331424 RCV000388304 RCV000994494 RCV004021460
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157284.1:p.Gly348Arg
CA5653154
NM_001163812.2:c.1042G>A
CA378209728
NM_001163812.2:c.1042G>C