ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829495130
Gene: DMD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Thr348Lys
CA328539626
NM_004010.3:c.1043C>A