ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001304
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94579
ClinVar RCV Id:
RCV000080568
RCV001257055
RCV002321577
RCV001826743
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Glu950Lys
CA222373
NM_004010.3:c.2848G>A