ClinGen Allele Registry
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Canonical Allele Identifier:
CA2797629767
Gene: NOS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.117439601G>A , CM000674.2:g.117439601G>A
GRCh38
NC_000012.11:g.117877406G>A , CM000674.1:g.117877406G>A
GRCh37
NC_000012.10:g.116361789G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000549189.1:n.470+12100C>T
Search 100 bp 5'
Search 100 bp 3'