ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829483645
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1729081
ClinVar RCV Id:
RCV002445485
RCV003099310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Glu1074Lys
CA412664920
NM_004006.3:c.3220G>A