ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829500221
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_004002.3:p.Gln1375Arg
CA246410
NM_004011.4:c.4124A>G