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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:
PA2825751103
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452293
ClinVar RCV Id:
RCV000520965
RCV001829524
RCV002528266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124449.1:p.Ala1980Val
CA1707565
NM_001130977.2:c.5939C>T