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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:
CA1622509298
Gene:
Linked Data
dbSNP Id:
rs1768019583
gnomAD v4:
6-39048765-C-CCGCCACCAGCCCGGGATCAGTCTCCGCA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.39048769_39048796dup , CM000668.2:g.39048769_39048796dup
GRCh38
NC_000006.11:g.39016545_39016572dup , CM000668.1:g.39016545_39016572dup
GRCh37
NC_000006.10:g.39124523_39124550dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'