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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:
PA2827543375
Gene: RIMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1477725
ClinVar RCV Id:
RCV002018812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337400.1:p.Arg654Gln
CA3886458
NM_001350471.2:c.1961G>A