ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828916048
Gene: DES
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369639.1:p.Arg383Pro
CA350695020
NM_001382710.1:c.1148G>C