ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829506923
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
239615
ClinVar RCV Id:
RCV000229457
RCV000764875
RCV001828115
RCV001854834
RCV002472977
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004008.1:p.Ile126Leu
CA10377775
NM_004017.3:c.376A>C