ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829484645
Gene: DMD
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000485408
RCV003512049
ClinVar Variation:
423086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Leu1717Phe
CA10378765
NM_004006.3:c.5149C>T