ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829483635
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000080568
RCV001257055
RCV001826743
RCV002321577
ClinVar Variation:
94579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Glu1073Lys
CA222373
NM_004006.3:c.3217G>A