ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828916239
Gene: DES
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369640.1:p.Leu115Ile
CA350685384
NM_001382711.1:c.343C>A