ClinGen Allele Registry
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Canonical Allele Identifier:
PA916001749
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228592
ClinVar RCV Id:
RCV000218962
RCV000756029
RCV001087654
RCV002347839
RCV004532754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004002.3:p.Glu485Gln
CA10378674
NM_004011.4:c.1453G>C