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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:
CA2650261108
Gene: CR2
HGNC
NCBI
Linked Data
gnomAD v4:
1-207454160-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.207454161del , CM000663.2:g.207454161del
GRCh38
NC_000001.10:g.207627506del , CM000663.1:g.207627506del
GRCh37
NC_000001.9:g.205694129del
NCBI36
NG_013006.1:g.4862del , LRG_348:g.4862del
Transcript Alleles
HGVS
Amino-acid change
ENST00000699640.1:c.-385+1066del
ENSP00000514493.1:n.-385+1066del
Search 100 bp 5'
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