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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
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Canonical Allele Identifier:
CA1322147791
Gene: CTLA4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203866084_203866087delinsCAAT , CM000664.2:g.203866084_203866087delinsCAAT
GRCh38
NC_000002.11:g.204730807_204730810delinsCAAT , CM000664.1:g.204730807_204730810delinsCAAT
GRCh37
NC_000002.10:g.204439052_204439055delinsCAAT
NCBI36
NG_011502.1:g.3299_3302delinsCAAT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000696479.1:c.48-1834_48-1831delinsCAAT
ENSP00000512655.1:n.48-1834_48-1831delinsCAAT
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