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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:
CA398317038
Gene: NOS2
HGNC
NCBI
Linked Data
dbSNP Id:
rs936363571
gnomAD v4:
17-27804221-C-A
MyVariant Identifiers:
chr17:g.26131247C>A (hg19)
chr17:g.27804221C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.27804221C>A , CM000679.2:g.27804221C>A
GRCh38
NC_000017.10:g.26131247C>A , CM000679.1:g.26131247C>A
GRCh37
NC_000017.9:g.23155374C>A
NCBI36
NG_011470.1:g.1309G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000582441.1:c.340G>T
ENSP00000462879.1:p.Glu114Ter
XM_011524859.1:c.-172G>T
XP_011523161.1:n.-172G>T
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