Canonical Allele Identifier: PA1139739310
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 880052
ClinVar RCV Id: RCV001108046 RCV001108047 RCV001108049 RCV001108048 RCV003688899
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_068602.2:p.Val305Ile
CA212963101
NM_021830.4:c.913G>A