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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:
CA1664474065
Gene:
Linked Data
dbSNP Id:
rs1774383799
gnomAD v4:
6-132295891-CAT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.132295894_132295895del , CM000668.2:g.132295894_132295895del
GRCh38
NC_000006.11:g.132617033_132617034del , CM000668.1:g.132617033_132617034del
GRCh37
NC_000006.10:g.132658726_132658727del
NCBI36
Search 100 bp 5'
Search 100 bp 3'