Canonical Allele Identifier: PA2825963641
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 1940082
ClinVar RCV Id: RCV002658221

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157284.1:p.Val231Leu
CA5653102
NM_001163812.2:c.691G>C
CA378208107
NM_001163812.2:c.691G>T