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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:
CA2636791127
Gene: NOS2
HGNC
NCBI
Linked Data
gnomAD v4:
17-27804214-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.27804219del , CM000679.2:g.27804219del
GRCh38
NC_000017.10:g.26131245del , CM000679.1:g.26131245del
GRCh37
NC_000017.9:g.23155372del
NCBI36
NG_011470.1:g.1315del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000582441.1:c.346del
ENSP00000462879.1:p.Ala116ProfsTer23
XM_011524859.1:c.-166del
XP_011523161.1:n.-166del
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