ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829500953
Gene: DMD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004002.3:p.Ala2080Val
CA255767
NM_004011.4:c.6239C>T