Canonical Allele Identifier: PA2825963818
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 694438
ClinVar RCV Id: RCV000855769 RCV002536207
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157284.1:p.Trp474Cys
CA212963556
NM_001163812.2:c.1422G>T
CA378210872
NM_001163812.2:c.1422G>C