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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:
CA1034386478
Gene: IL18R1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1678185945
gnomAD v3:
2-102355468-T-TA
gnomAD v4:
2-102355468-T-TA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.102355476dup , CM000664.2:g.102355476dup
GRCh38
NC_000002.11:g.102971936dup , CM000664.1:g.102971936dup
GRCh37
NC_000002.10:g.102338368dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000410040.5:c.-28-7157dup
ENSP00000386663.1:n.-28-7157dup
Search 100 bp 5'
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