ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829493257
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000179162
RCV000723963
RCV001079559
RCV001833087
ClinVar Variation:
197979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004000.1:p.Gln2712Arg
CA246410
NM_004009.3:c.8135A>G