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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:
PA2825768705
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
579361
ClinVar RCV Id:
RCV000702622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124458.1:p.Val69Met
CA1705254
NM_001130986.2:c.205G>A