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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:
CA1042645710
Gene:
Linked Data
gnomAD v3:
2-221207340-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
2-221207340-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.221207362_221207363insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.221207362_221207363insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000002.11:g.222072082_222072083insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.222072082_222072083insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000002.10:g.221780326_221780327insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'