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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:
CA1213245755
Gene: PTGS2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186680605_186680606delinsAC , CM000663.2:g.186680605_186680606delinsAC
GRCh38
NC_000001.10:g.186649737_186649738delinsAC , CM000663.1:g.186649737_186649738delinsAC
GRCh37
NC_000001.9:g.184916360_184916361delinsAC
NCBI36
NG_028206.2:g.4822_4823delinsGT
Transcript Alleles
HGVS
Amino-acid change
ENST00000680451.1:c.-114+98_-114+99delinsGT
ENSP00000506242.1:n.-114+98_-114+99delins...
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