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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:
PA2825693628
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2023880
ClinVar RCV Id:
RCV002862900
RCV003146646
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123927.1:p.Asp626Asn
CA1705980
NM_001130455.2:c.1876G>A