ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829484829
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000585494
RCV000794522
RCV001002261
RCV001826754
RCV004017393
ClinVar Variation:
94659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Arg1763Leu
CA222426
NM_004006.3:c.5288G>T