ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828916255
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3069155
ClinVar RCV Id:
RCV004006215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369640.1:p.Ile123Leu
CA350685567
NM_001382711.1:c.367A>C