ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828916561
Gene: DES
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369640.1:p.Asp448Asn
CA2125306
NM_001382711.1:c.1342G>A