ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828914950
Gene: DES
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369637.1:p.Leu115Phe
CA350685389
NM_001382708.1:c.343C>T