Canonical Allele Identifier: PA2825963713
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 450033
ClinVar RCV Id: RCV000521964

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157284.1:p.Gln338His
CA378209670
NM_001163812.2:c.1014G>C
CA378209671
NM_001163812.2:c.1014G>T