ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829504428
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2177123
ClinVar RCV Id:
RCV002585381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004004.2:p.Glu617Lys
CA412652561
NM_004013.3:c.1849G>A