ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825074228
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_000100.3:p.Gln2708Arg
CA246410
NM_000109.4:c.8123A>G