ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825071346
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497234
ClinVar RCV Id:
RCV000591078
RCV002395514
RCV002532367
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000100.3:p.Ala517Thr
CA10379812
NM_000109.4:c.1549G>A