ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139718131
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226566
ClinVar RCV Id:
RCV000213171
RCV000251049
RCV000469616
RCV001722144
RCV001828055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Ala573Val
CA10379745
NM_004006.3:c.1718C>T