Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA1034386452

Gene: IL18R1 HGNC NCBI

Linked Data

dbSNP Id: rs1678179447

gnomAD v3: 2-102355365-G-C

gnomAD v4: 2-102355365-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.102355365G>C , CM000664.2:g.102355365G>C	GRCh38
NC_000002.11:g.102971825G>C , CM000664.1:g.102971825G>C	GRCh37
NC_000002.10:g.102338257G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000410040.5:c.-28-7268G>C	ENSP00000386663.1:n.-28-7268G>C

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