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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:
CA1322147853
Gene: CTLA4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203866209_203866210delinsTG , CM000664.2:g.203866209_203866210delinsTG
GRCh38
NC_000002.11:g.204730932_204730933delinsTG , CM000664.1:g.204730932_204730933delinsTG
GRCh37
NC_000002.10:g.204439177_204439178delinsTG
NCBI36
NG_011502.1:g.3424_3425delinsTG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000696479.1:c.48-1709_48-1708delinsTG
ENSP00000512655.1:n.48-1709_48-1708delinsTG
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