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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:
CA2045505843
Gene:
Linked Data
dbSNP Id:
rs41269709
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.71938448_71938454del , CM000674.2:g.71938448_71938454del
GRCh38
NC_000012.11:g.72332228_72332234del , CM000674.1:g.72332228_72332234del
GRCh37
NC_000012.10:g.70618495_70618501del
NCBI36
NG_008279.1:g.4603_4609del
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