ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829500066
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
264181
ClinVar RCV Id:
RCV000253476
RCV001246274
RCV001828165
RCV002494792
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004002.3:p.Arg1230Leu
CA10378222
NM_004011.4:c.3689G>T