ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829509559
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526102
ClinVar RCV Id:
RCV000630571
RCV001829760
RCV002413797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004012.2:p.Ile285Thr
CA328438215
NM_004021.3:c.854T>C