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: CA1030641563

Gene: NRXN1-DT HGNC NCBI

Linked Data

dbSNP Id: rs1667868131

gnomAD v3: 2-51936314-G-A

gnomAD v4: 2-51936314-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.51936314G>A , CM000664.2:g.51936314G>A	GRCh38
NC_000002.11:g.52163452G>A , CM000664.1:g.52163452G>A	GRCh37
NC_000002.10:g.52016956G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_245003.1:n.879+74826G>A
NR_135237.1:n.879+74826G>A

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