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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:
CA953408079
Gene:
Linked Data
dbSNP Id:
rs1953652922
gnomAD v3:
12-131529675-A-AGCAGAACATCGGTACCG
gnomAD v4:
12-131529675-A-AGCAGAACATCGGTACCG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.131529679_131529695dup , CM000674.2:g.131529679_131529695dup
GRCh38
NC_000012.11:g.132014224_132014240dup , CM000674.1:g.132014224_132014240dup
GRCh37
NC_000012.10:g.130580177_130580193dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_945564.1:n.1076+83_1076+99dup
XR_001749407.2:n.1067+83_1067+99dup
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