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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:
CA2649583319
Gene: PTGS2
HGNC
NCBI
Linked Data
gnomAD v4:
1-186680497-TC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186680499del , CM000663.2:g.186680499del
GRCh38
NC_000001.10:g.186649631del , CM000663.1:g.186649631del
GRCh37
NC_000001.9:g.184916254del
NCBI36
NG_028206.2:g.4930del
Transcript Alleles
HGVS
Amino-acid change
ENST00000680451.1:c.-113-95del
ENSP00000506242.1:n.-113-95del
Search 100 bp 5'
Search 100 bp 3'