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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:
CA1011643153
Gene: CR2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1657762829
gnomAD v3:
1-207454149-AG-A
gnomAD v4:
1-207454149-AG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.207454153del , CM000663.2:g.207454153del
GRCh38
NC_000001.10:g.207627498del , CM000663.1:g.207627498del
GRCh37
NC_000001.9:g.205694121del
NCBI36
NG_013006.1:g.4854del , LRG_348:g.4854del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000699640.1:c.-385+1058del
ENSP00000514493.1:n.-385+1058del
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