ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829495755
Gene: DMD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Ala648Val
CA412673690
NM_004010.3:c.1943C>T