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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:
CA2508941874
Gene: CTLA4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203856847_203856849dup , CM000664.2:g.203856847_203856849dup
GRCh38
NC_000002.11:g.204721570_204721572dup , CM000664.1:g.204721570_204721572dup
GRCh37
NC_000002.10:g.204429815_204429817dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000696479.1:c.47+2771_47+2773dup
ENSP00000512655.1:n.47+2771_47+2773dup
XR_923797.1:n.225-5626_225-5624dup
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