ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828915446
Gene: DES
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369638.1:p.Arg127His
CA350685731
NM_001382709.1:c.380G>A