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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:
CA2483404469
Gene: CR2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.207454165_207454167delinsCAA , CM000663.2:g.207454165_207454167delinsCAA
GRCh38
NC_000001.10:g.207627510_207627512delinsCAA , CM000663.1:g.207627510_207627512delinsCAA
GRCh37
NC_000001.9:g.205694133_205694135delinsCAA
NCBI36
NG_013006.1:g.4866_4868delinsCAA , LRG_348:g.4866_4868delinsCAA
Transcript Alleles
HGVS
Amino-acid change
ENST00000699640.1:c.-385+1070_-385+1072delinsCAA
ENSP00000514493.1:n.-385+1070_-385+1072delinsCAA
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