ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829495427
Gene: DMD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000432096
RCV001861609
RCV002411381
ClinVar Variation:
388764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Thr507Lys
CA16609180
NM_004010.3:c.1520C>A