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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:
CA1042645682
Gene:
Linked Data
gnomAD v3:
2-221207340-C-CAAAAAAAAAAAAA
gnomAD v4:
2-221207340-C-CAAAAAAAAAAAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.221207350_221207362dup , CM000664.2:g.221207350_221207362dup
GRCh38
NC_000002.11:g.222072070_222072082dup , CM000664.1:g.222072070_222072082dup
GRCh37
NC_000002.10:g.221780314_221780326dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'