ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139717053
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
227305
ClinVar RCV Id:
RCV000214960
RCV000732782
RCV001085127
RCV001833181
RCV002390569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Arg49Cys
CA10380250
NM_004006.3:c.145C>T