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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:
CA727661044
Gene: NOS2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1466682562
MyVariant Identifiers:
chr17:g.26128440_26128448del (hg19)
chr17:g.27801414_27801422del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.27801417_27801425del , CM000679.2:g.27801417_27801425del
GRCh38
NC_000017.10:g.26128443_26128451del , CM000679.1:g.26128443_26128451del
GRCh37
NC_000017.9:g.23152570_23152578del
NCBI36
NG_011470.1:g.4108_4116del
Transcript Alleles
HGVS
Amino-acid change
ENST00000582441.1:c.439-2540_439-2532del
ENSP00000462879.1:n.439-2540_439-2532del
XM_011524859.1:c.-73-2540_-73-2532del
XP_011523161.1:n.-73-2540_-73-2532del
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