Canonical Allele Identifier: PA2828917248
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 2245315
ClinVar RCV Id: RCV004104235
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369642.1:p.Gln165His
CA350686655
NM_001382713.1:c.495G>C
CA350686657
NM_001382713.1:c.495G>T