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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:
CA1067437416
Gene:
Linked Data
dbSNP Id:
rs1725147458
gnomAD v3:
4-121698790-A-AT
gnomAD v4:
4-121698790-A-AT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.121698790_121698791insT , CM000666.2:g.121698790_121698791insT
GRCh38
NC_000004.11:g.122619945_122619946insT , CM000666.1:g.122619945_122619946insT
GRCh37
NC_000004.10:g.122839395_122839396insT
NCBI36
NG_032042.1:g.3202_3203insA
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