ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573083770
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498354
ClinVar RCV Id:
RCV000591854
RCV000696509
RCV001829644
RCV002431747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Phe750Ser
CA10379593
NM_004006.3:c.2249T>C