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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:
CA1096565208
Gene:
Linked Data
gnomAD v3:
6-160668693-GGGT-G
gnomAD v4:
6-160668693-GGGT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668694_160668696del , CM000668.2:g.160668694_160668696del
GRCh38
NC_000006.11:g.161089726_161089728del , CM000668.1:g.161089726_161089728del
GRCh37
NC_000006.10:g.161009716_161009718del
NCBI36
NG_016147.1:g.2680_2682del
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2323_115-2321del
Search 100 bp 5'
Search 100 bp 3'