Canonical Allele Identifier: PA133862
Gene: DES HGNC NCBI

Linked Data

ClinVar Variation Id: 44265
ClinVar RCV Id: RCV000037245 RCV000056805 RCV000203295 RCV000239721 RCV000250294 RCV000263666 RCV000313133 RCV000367823 RCV001083932 RCV001171067
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001918.3:p.Ala213Val
CA133860
NM_001927.4:c.638C>T