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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:
CA1069836771
Gene:
Linked Data
dbSNP Id:
rs1745623168
gnomAD v3:
4-156090673-C-CT
gnomAD v4:
4-156090673-C-CT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.156090673_156090674insT , CM000666.2:g.156090673_156090674insT
GRCh38
NC_000004.11:g.157011825_157011826insT , CM000666.1:g.157011825_157011826insT
GRCh37
NC_000004.10:g.157231275_157231276insT
NCBI36
Search 100 bp 5'
Search 100 bp 3'