ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825072183
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94579
ClinVar RCV Id:
RCV000080568
RCV001257055
RCV002321577
RCV001826743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000100.3:p.Glu1065Lys
CA222373
NM_000109.4:c.3193G>A