ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002686
Gene: DMD
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004014.2:p.Gln512Ter
NM_004023.3:c.1534C>T