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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:
CA821666695
Gene:
Linked Data
dbSNP Id:
rs1166538458
gnomAD v3:
6-160668682-A-ATGG
gnomAD v4:
6-160668682-A-ATGG
MyVariant Identifiers:
chr6:g.161089714_161089715insTGG (hg19)
chr6:g.160668682_160668683insTGG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668692_160668694dup , CM000668.2:g.160668692_160668694dup
GRCh38
NC_000006.11:g.161089724_161089726dup , CM000668.1:g.161089724_161089726dup
GRCh37
NC_000006.10:g.161009714_161009716dup
NCBI36
NG_016147.1:g.2691_2693dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2312_115-2310dup
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