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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:
CA728763407
Gene: PTGS2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1384447483
MyVariant Identifiers:
chr1:g.186649621_186649622del (hg19)
chr1:g.186680489_186680490del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186680490_186680491del , CM000663.2:g.186680490_186680491del
GRCh38
NC_000001.10:g.186649622_186649623del , CM000663.1:g.186649622_186649623del
GRCh37
NC_000001.9:g.184916245_184916246del
NCBI36
NG_028206.2:g.4938_4939del
Transcript Alleles
HGVS
Amino-acid change
ENST00000680451.1:c.-113-87_-113-86del
ENSP00000506242.1:n.-113-87_-113-86del
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