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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:
CA2616246305
Gene: CD3E
HGNC
NCBI
Linked Data
gnomAD v4:
11-118304691-CG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.118304692del , CM000673.2:g.118304692del
GRCh38
NC_000011.9:g.118175407del , CM000673.1:g.118175407del
GRCh37
NC_000011.8:g.117680617del
NCBI36
NG_007383.1:g.5113del , LRG_38:g.5113del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000361763.8:c.-144del
ENSP00000354566.4:n.-144del
NM_000733.3:c.-144del , LRG_38t1:c.-144del
NP_000724.1:n.-144del
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