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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:
CA982708886
Gene: NOS2
HGNC
NCBI
Linked Data
gnomAD v3:
17-27801519-G-GAGTTCGAGA
gnomAD v4:
17-27801519-G-GAGTTCGAGA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.27801519_27801520insAGTTCGAGA , CM000679.2:g.27801519_27801520insAGTTCGAGA
GRCh38
NC_000017.10:g.26128545_26128546insAGTTCGAGA , CM000679.1:g.26128545_26128546insAGTTCGAGA
GRCh37
NC_000017.9:g.23152672_23152673insAGTTCGAGA
NCBI36
NG_011470.1:g.4010_4011insTCTCGAACT
Transcript Alleles
HGVS
Amino-acid change
ENST00000582441.1:c.438+2603_438+2604insTCTCGAACT
ENSP00000462879.1:n.438+2603_438+2604insTCTCGAACT
XM_011524859.1:c.-74+2603_-74+2604insTCTCGAACT
XP_011523161.1:n.-74+2603_-74+2604insTCTCGAACT
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