ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829493587
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222548
ClinVar RCV Id:
RCV000208509
RCV000315245
RCV002444834
RCV002517392
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004000.1:p.Arg2947Cys
CA070630
NM_004009.3:c.8839C>T