ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829506162
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
94444
ClinVar RCV Id:
RCV001043284
RCV001703995
RCV003162511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004006.1:p.Thr480Ile
CA222280
NM_004015.3:c.1439C>T