ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829497529
Gene: DMD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
493228
ClinVar RCV:
RCV000593288
RCV000706382
RCV001829679
RCV002350429
ClinVar Variation:
501804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Gln1744Glu
CA10378631
NM_004010.3:c.5230C>G