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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:
CA2607259092
Gene:
Linked Data
dbSNP Id:
rs2105739770
gnomAD v3:
2-203934728-TC-T
gnomAD v4:
2-203934728-TC-T
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Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.203934730del , CM000664.2:g.203934730del
GRCh38
NC_000002.11:g.204799453del , CM000664.1:g.204799453del
GRCh37
NC_000002.10:g.204507698del
NCBI36
NG_011586.1:g.2951del , LRG_65:g.2951del
Transcript Alleles
HGVS
Amino-acid change
XR_427213.2:n.460+1379del
XR_001739861.1:n.1539del
XR_427213.3:n.474+1379del
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