ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829485762
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
518745
ClinVar RCV Id:
RCV000618265
RCV001052071
RCV001829735
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003997.2:p.Thr2067Met
CA412666100
NM_004006.3:c.6200C>T