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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2066046349
Gene: NOS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.117439714_117439715delinsAG , CM000674.2:g.117439714_117439715delinsAG
GRCh38
NC_000012.11:g.117877519_117877520delinsAG , CM000674.1:g.117877519_117877520delinsAG
GRCh37
NC_000012.10:g.116361902_116361903delinsAG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000549189.1:n.470+11986_470+11987delinsCT
Search 100 bp 5'
Search 100 bp 3'