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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:
CA2607477047
Gene:
Linked Data
gnomAD v3:
2-221207340-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
2-221207340-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.221207362_221207363insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.221207362_221207363insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000002.11:g.222072082_222072083insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.222072082_222072083insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000002.10:g.221780326_221780327insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'