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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829494696
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11279
ClinVar RCV Id:
RCV000012030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004001.1:p.Thr156Ala
CA255770
NM_004010.3:c.466A>G