ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827718384
Gene: DYM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3193
ClinVar RCV Id:
RCV000003344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340141.1:p.Cys596Arg
CA116051
NM_001353212.3:c.1786T>C