ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829497541
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
857583
ClinVar RCV Id:
RCV001063290
RCV001833618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Leu1750Val
CA10378628
NM_004010.3:c.5248C>G