ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825073130
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
518509
ClinVar RCV Id:
RCV000620543
RCV001244304
RCV002498994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000100.3:p.Ile1749Thr
CA10378736
NM_000109.4:c.5246T>C