Canonical Allele Identifier: PA2741957086
Gene: DESI2 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_057160.2:p.Arg190Cys
CA1486041
NM_016076.5:c.568C>T