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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:
CA1096565182
Gene:
Linked Data
dbSNP Id:
rs2115121589
gnomAD v3:
6-160668690-GGTGGGTA-G
gnomAD v4:
6-160668690-GGTGGGTA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668693_160668699del , CM000668.2:g.160668693_160668699del
GRCh38
NC_000006.11:g.161089725_161089731del , CM000668.1:g.161089725_161089731del
GRCh37
NC_000006.10:g.161009715_161009721del
NCBI36
NG_016147.1:g.2679_2685del
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2324_115-2318del
Search 100 bp 5'
Search 100 bp 3'