Canonical Allele Identifier: PA2828914834
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 1464473
ClinVar RCV Id: RCV001997968
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001369637.1:p.Thr17Ser
CA350682380
NM_001382708.1:c.49A>T
CA350682390
NM_001382708.1:c.50C>G