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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:
CA977258902
Gene:
Linked Data
gnomAD v3:
16-50987895-A-AATTTTTTAATGATACGGCG
gnomAD v4:
16-50987895-A-AATTTTTTAATGATACGGCG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.50987896_50987897insTTTTTTAATGATACGGCGA , CM000678.2:g.50987896_50987897insTTTTTTAATGATACGGCGA
GRCh38
NC_000016.9:g.51021807_51021808insTTTTTTAATGATACGGCGA , CM000678.1:g.51021807_51021808insTTTTTTAATGATACGGCGA
GRCh37
NC_000016.8:g.49579308_49579309insTTTTTTAATGATACGGCGA
NCBI36
Search 100 bp 5'
Search 100 bp 3'