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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:
CA1042645756
Gene:
Linked Data
dbSNP Id:
rs5838863
gnomAD v3:
2-221207340-C-CAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
2-221207340-C-CAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.221207362_221207363insAAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.221207362_221207363insAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000002.11:g.222072082_222072083insAAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.222072082_222072083insAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000002.10:g.221780326_221780327insAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'