Canonical Allele Identifier: PA2825963811
Gene: TWNK HGNC NCBI

Linked Data

ClinVar Variation Id: 1344247
ClinVar RCV Id: RCV001848350

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001157284.1:p.Glu465Asp
CA378210795
NM_001163812.2:c.1395A>C
CA378210797
NM_001163812.2:c.1395A>T