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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:
CA1322147928
Gene: CTLA4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1688628627
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203866346_203866348del , CM000664.2:g.203866346_203866348del
GRCh38
NC_000002.11:g.204731069_204731071del , CM000664.1:g.204731069_204731071del
GRCh37
NC_000002.10:g.204439314_204439316del
NCBI36
NG_011502.1:g.3561_3563del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000696479.1:c.48-1572_48-1570del
ENSP00000512655.1:n.48-1572_48-1570del
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