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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:
CA1042645686
Gene:
Linked Data
gnomAD v3:
2-221207340-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
2-221207340-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.221207362_221207363insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.221207362_221207363insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000002.11:g.222072082_222072083insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.222072082_222072083insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000002.10:g.221780326_221780327insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'