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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
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Canonical Allele Identifier:
CA2636791130
Gene: NOS2
HGNC
NCBI
Linked Data
gnomAD v4:
17-27804320-TGATG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.27804325_27804328del , CM000679.2:g.27804325_27804328del
GRCh38
NC_000017.10:g.26131351_26131354del , CM000679.1:g.26131351_26131354del
GRCh37
NC_000017.9:g.23155478_23155481del
NCBI36
NG_011470.1:g.1206_1209del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000582441.1:c.237_240del
ENSP00000462879.1:p.Ile80SerfsTer?
XM_011524859.1:c.-275_-272del
XP_011523161.1:n.-275_-272del
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