Canonical Allele Identifier: PA916047255
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 383137
ClinVar RCV Id: RCV001105999 RCV001105997 RCV001105998 RCV000726623 RCV001106000 RCV001848766 RCV004533016 RCV003993959
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001355204.1:p.Tyr83His
CA5653294
NM_001368275.1:c.247T>C