Canonical Allele Identifier: PA2826846047
Gene: DESI2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001284675.1:p.Arg157Cys
CA1486041
NM_001297746.2:c.469C>T