ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580283790
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2052437
ClinVar RCV Id:
RCV002932733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004002.3:p.Val347Ala
CA10378781
NM_004011.4:c.1040T>C