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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:
CA1033059213
Gene:
Linked Data
gnomAD v3:
2-85472627-C-CATTCAAAACGTATTTACTGAATAAATTTTGAAAATATGTGGT
gnomAD v4:
2-85472627-C-CATTCAAAACGTATTTACTGAATAAATTTTGAAAATATGTGGT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.85472628_85472629insTTCAAAACGTATTTACTGAATAAATTTTGAAAATATGTGGTA , CM000664.2:g.85472628_85472629insTTCAAAACGTATTTACTGAATAAATTTTGAAAATATGTGGTA
GRCh38
NC_000002.11:g.85699751_85699752insTTCAAAACGTATTTACTGAATAAATTTTGAAAATATGTGGTA , CM000664.1:g.85699751_85699752insTTCAAAACGTATTTACTGAATAAATTTTGAAAATATGTGGTA
GRCh37
NC_000002.10:g.85553262_85553263insTTCAAAACGTATTTACTGAATAAATTTTGAAAATATGTGGTA
NCBI36
Search 100 bp 5'
Search 100 bp 3'