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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:
CA763579776
Gene: CTLA4
HGNC
NCBI
Linked Data
dbSNP Id:
rs1166091932
MyVariant Identifiers:
chr2:g.204721731_204721734del (hg19)
chr2:g.203857008_203857011del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203857011_203857014del , CM000664.2:g.203857011_203857014del
GRCh38
NC_000002.11:g.204721734_204721737del , CM000664.1:g.204721734_204721737del
GRCh37
NC_000002.10:g.204429979_204429982del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000696479.1:c.47+2935_47+2938del
ENSP00000512655.1:n.47+2935_47+2938del
XR_923797.1:n.225-5462_225-5459del
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