Canonical Allele Identifier: PA2825963657
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 2802983
ClinVar RCV Id: RCV003679265

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157284.1:p.Ser254Arg
CA5653116
NM_001163812.2:c.760A>C
CA378208394
NM_001163812.2:c.762T>A
CA378208395
NM_001163812.2:c.762T>G