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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:
PA2825746828
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
970142
ClinVar RCV Id:
RCV001245659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124448.1:p.Ala129Thr
CA347205451
NM_001130976.2:c.385G>A