ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829494875
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498588
ClinVar RCV Id:
RCV000596128
RCV001242280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Ser230Leu
CA10379980
NM_004010.3:c.689C>T