ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573083947
Gene: DMD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Leu1344Phe
CA10379130
NM_004006.3:c.4030C>T