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: CA534999810

Gene: IL18R1 HGNC NCBI

Linked Data

dbSNP Id: rs1350389306

gnomAD v2: 2-102971803-G-A

MyVariant Identifiers: chr2:g.102971803G>A (hg19) chr2:g.102355343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.102355343G>A , CM000664.2:g.102355343G>A	GRCh38
NC_000002.11:g.102971803G>A , CM000664.1:g.102971803G>A	GRCh37
NC_000002.10:g.102338235G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000410040.5:c.-28-7290G>A	ENSP00000386663.1:n.-28-7290G>A

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