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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:
PA2829488926
Gene: DMD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289521
ClinVar RCV Id:
RCV000271697
RCV000464733
RCV001528635
RCV001835763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004000.1:p.Thr304Ile
CA10380027
NM_004009.3:c.911C>T