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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:
CA1107004069
Gene:
Linked Data
dbSNP Id:
rs1795096594
gnomAD v3:
7-128238005-AG-A
gnomAD v4:
7-128238005-AG-A
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Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.128238007del , CM000669.2:g.128238007del
GRCh38
NC_000007.13:g.127878060del , CM000669.1:g.127878060del
GRCh37
NC_000007.12:g.127665296del
NCBI36
NG_007450.1:g.1730del
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