Canonical Allele Identifier: PA2741980099
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 2854231
ClinVar RCV Id: RCV003688535

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_068602.2:p.Leu483His
CA378210927
NM_021830.4:c.1448T>A