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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:
CA1042645759
Gene:
Linked Data
dbSNP Id:
rs5838863
gnomAD v3:
2-221207340-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
2-221207340-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.221207362_221207363insAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.221207362_221207363insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38
NC_000002.11:g.222072082_222072083insAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.222072082_222072083insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37
NC_000002.10:g.221780326_221780327insAAAAAAAAAAAAAAAAAAAAAAAAAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'