ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645479978
Gene: DMD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.1:p.Leu172Val
CA10380147
NM_004006.2:c.514C>G