ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829512238
Gene: DMD
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004014.2:p.Met1057Lys
CA412648660
NM_004023.3:c.3170T>A