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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:
CA1322147926
Gene: CTLA4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203866345_203866348delinsCGCT , CM000664.2:g.203866345_203866348delinsCGCT
GRCh38
NC_000002.11:g.204731068_204731071delinsCGCT , CM000664.1:g.204731068_204731071delinsCGCT
GRCh37
NC_000002.10:g.204439313_204439316delinsCGCT
NCBI36
NG_011502.1:g.3560_3563delinsCGCT
Transcript Alleles
HGVS
Amino-acid change
ENST00000696479.1:c.48-1573_48-1570delinsCGCT
ENSP00000512655.1:n.48-1573_48-1570delinsCGCT
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