ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001199
Gene: DMD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Leu49Val
CA10380147
NM_004010.3:c.145C>G