ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829496041
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
382670
ClinVar RCV Id:
RCV000445178
RCV000621146
RCV000727237
RCV000820116
RCV001195878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Cys750Arg
CA10379488
NM_004010.3:c.2248T>C