ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829494914
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393185
ClinVar RCV Id:
RCV000432889
RCV001833571
RCV002488986
RCV002526364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Asn247Ile
CA10379972
NM_004010.3:c.740A>T