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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:
PA2580317268
Gene: WFS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2065723
ClinVar RCV Id:
RCV002958686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005996.2:p.Leu380Val
CA356174330
NM_006005.3:c.1138C>G