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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:
CA1096565211
Gene:
Linked Data
dbSNP Id:
rs1780353323
gnomAD v3:
6-160668694-G-GCT
gnomAD v4:
6-160668694-G-GCT
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Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668694_160668695insCT , CM000668.2:g.160668694_160668695insCT
GRCh38
NC_000006.11:g.161089726_161089727insCT , CM000668.1:g.161089726_161089727insCT
GRCh37
NC_000006.10:g.161009716_161009717insCT
NCBI36
NG_016147.1:g.2681_2682insAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2322_115-2321insAG
Search 100 bp 5'
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