ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499265546
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1051975
ClinVar RCV Id:
RCV001360085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004002.3:p.Lys550Ile
CA10378627
NM_004011.4:c.1649A>T