ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829486468
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000179108
RCV001084508
RCV002390438
ClinVar Variation:
197936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Arg2553Gln
CA246329
NM_004006.3:c.7658G>A