ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825070918
Gene: DMD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000100.3:p.Pro250Thr
CA10380076
NM_000109.4:c.748C>A