ClinGen Allele Registry
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Canonical Allele Identifier:
CA2066046023
Gene: NOS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1870086722
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.117439547G>T , CM000674.2:g.117439547G>T
GRCh38
NC_000012.11:g.117877352G>T , CM000674.1:g.117877352G>T
GRCh37
NC_000012.10:g.116361735G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000549189.1:n.470+12154C>A
Search 100 bp 5'
Search 100 bp 3'