ClinGen Allele Registry
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Canonical Allele Identifier:
CA2066046143
Gene: NOS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1592882306
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.117439615T>G , CM000674.2:g.117439615T>G
GRCh38
NC_000012.11:g.117877420T>G , CM000674.1:g.117877420T>G
GRCh37
NC_000012.10:g.116361803T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000549189.1:n.470+12086A>C
Search 100 bp 5'
Search 100 bp 3'