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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:
CA1213245687
Gene: PTGS2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186680488_186680490delinsCTG , CM000663.2:g.186680488_186680490delinsCTG
GRCh38
NC_000001.10:g.186649620_186649622delinsCTG , CM000663.1:g.186649620_186649622delinsCTG
GRCh37
NC_000001.9:g.184916243_184916245delinsCTG
NCBI36
NG_028206.2:g.4938_4940delinsCAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000680451.1:c.-113-87_-113-85delinsCAG
ENSP00000506242.1:n.-113-87_-113-85delins...
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