ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828914952
Gene: DES
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1488475
ClinVar RCV Id:
RCV002009169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369637.1:p.Leu115Pro
CA350685393
NM_001382708.1:c.344T>C