ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580261163
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1718790
ClinVar RCV Id:
RCV002301696
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001918.3:p.Ala134Glu
CA350685894
NM_001927.4:c.401C>A