ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829498477
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197979
ClinVar RCV Id:
RCV000179162
RCV000723963
RCV001079559
RCV001833087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Gln2593Arg
CA246410
NM_004010.3:c.7778A>G