ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139720473
Gene: DMD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004002.3:p.Pro197Leu
CA327983820
NM_004011.4:c.590C>T