ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916002717
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_004014.2:p.Val571Ile
CA10377913
NM_004023.3:c.1711G>A