ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829503175
Gene: DMD
HGNC
NCBI
Error
Service Error - Aggregation:
Error
Failed to retrieve aggregated linked-data
Status
timeout of 3500ms exceeded
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004003.2:p.Val1687Ile
CA10377913
NM_004012.4:c.5059G>A