ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829497473
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000247130
RCV000369939
RCV000468573
RCV000853039
RCV001085412
RCV001165782
RCV001835746
ClinVar Variation:
264026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Gln1706Glu
CA10378672
NM_004010.3:c.5116C>G