ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825073047
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2440832
ClinVar RCV Id:
RCV003146133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000100.3:p.Ala1690Val
CA412671546
NM_000109.4:c.5069C>T