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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:
CA929708222
Gene:
Linked Data
gnomAD v3:
10-70767558-GCCACAGAGTGGAACATGTCTC-G
gnomAD v4:
10-70767558-GCCACAGAGTGGAACATGTCTC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.70767559_70767579del , CM000672.2:g.70767559_70767579del
GRCh38
NC_000010.10:g.72527315_72527335del , CM000672.1:g.72527315_72527335del
GRCh37
NC_000010.9:g.72197321_72197341del
NCBI36
Search 100 bp 5'
Search 100 bp 3'