ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829492407
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1962897
ClinVar RCV Id:
RCV002710756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004000.1:p.Ile2048Thr
CA412666423
NM_004009.3:c.6143T>C