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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:
CA1096565222
Gene:
Linked Data
dbSNP Id:
rs1780353395
gnomAD v3:
6-160668698-GTAA-G
gnomAD v4:
6-160668698-GTAA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668700_160668702del , CM000668.2:g.160668700_160668702del
GRCh38
NC_000006.11:g.161089732_161089734del , CM000668.1:g.161089732_161089734del
GRCh37
NC_000006.10:g.161009722_161009724del
NCBI36
NG_016147.1:g.2675_2677del
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2328_115-2326del
Search 100 bp 5'
Search 100 bp 3'