Canonical Allele Identifier: PA323952
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 214180
ClinVar RCV Id: RCV000338208 RCV000283282 RCV000377740 RCV000374204 RCV000871398 RCV001847877 RCV004530167
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_068602.2:p.Arg682His
CA323951
NM_021830.4:c.2045G>A