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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:
PA094817
Gene: KIRREL3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2886
ClinVar RCV Id:
RCV000003020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115920.1:p.Arg40Trp
CA115828
NM_032531.4:c.118C>T