ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829503619
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000391421
RCV001243918
RCV001828190
RCV002401980
ClinVar Variation:
282880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004003.2:p.Glu2188Lys
CA10377564
NM_004012.4:c.6562G>A