ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829502126
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201738
ClinVar RCV Id:
RCV000183394
RCV001833101
RCV002354489
RCV002516927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004003.2:p.Thr716Ile
CA308364
NM_004012.4:c.2147C>T