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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:
CA1275224738
Gene: IL18R1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.102355206_102355207delinsCA , CM000664.2:g.102355206_102355207delinsCA
GRCh38
NC_000002.11:g.102971666_102971667delinsCA , CM000664.1:g.102971666_102971667delinsCA
GRCh37
NC_000002.10:g.102338098_102338099delinsCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000410040.5:c.-28-7427_-28-7426delinsCA
ENSP00000386663.1:n.-28-7427_-28-7426delinsCA
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