ClinGen Allele Registry
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Canonical Allele Identifier:
CA952313399
Gene: NOS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1870088417
gnomAD v3:
12-117439613-G-A
gnomAD v4:
12-117439613-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.117439613G>A , CM000674.2:g.117439613G>A
GRCh38
NC_000012.11:g.117877418G>A , CM000674.1:g.117877418G>A
GRCh37
NC_000012.10:g.116361801G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000549189.1:n.470+12088C>T
Search 100 bp 5'
Search 100 bp 3'