ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829494772
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497518
ClinVar RCV Id:
RCV000593736
RCV001057556
RCV003160009
RCV001835861
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Thr185Asn
CA10380028
NM_004010.3:c.554C>A