ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139718432
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
226049
ClinVar RCV Id:
RCV000211455
RCV000374144
RCV001397433
RCV001828052
RCV000725716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Ile749Val
CA10379595
NM_004006.3:c.2245A>G