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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:
CA621009402
Gene:
Linked Data
dbSNP Id:
rs1219225110
rs2141743665
gnomAD v2:
16-12708115-C-CAA
gnomAD v3:
16-12614258-C-CAA
gnomAD v4:
16-12614258-C-CAA
MyVariant Identifiers:
chr16:g.12708115_12708116insAA (hg19)
chr16:g.12614258_12614259insAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.12614259_12614260dup , CM000678.2:g.12614259_12614260dup
GRCh38
NC_000016.9:g.12708116_12708117dup , CM000678.1:g.12708116_12708117dup
GRCh37
NC_000016.8:g.12615617_12615618dup
NCBI36
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