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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:
CA1322144030
Gene: CTLA4
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203856857_203856860delinsAGTT , CM000664.2:g.203856857_203856860delinsAGTT
GRCh38
NC_000002.11:g.204721580_204721583delinsAGTT , CM000664.1:g.204721580_204721583delinsAGTT
GRCh37
NC_000002.10:g.204429825_204429828delinsAGTT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000696479.1:c.47+2781_47+2784delinsAGTT
ENSP00000512655.1:n.47+2781_47+2784delinsAGTT
XR_923797.1:n.225-5616_225-5613delinsAGTT
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