ClinGen Allele Registry
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Canonical Allele Identifier:
CA2066046139
Gene: NOS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.117439614G= , CM000674.2:g.117439614G=
GRCh38
NC_000012.11:g.117877419G= , CM000674.1:g.117877419G=
GRCh37
NC_000012.10:g.116361802G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000549189.1:n.470+12087C=
Search 100 bp 5'
Search 100 bp 3'