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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:
CA1091585244
Gene:
Linked Data
gnomAD v3:
6-88473915-TTGGC-T
gnomAD v4:
6-88473915-TTGGC-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.88473916_88473919del , CM000668.2:g.88473916_88473919del
GRCh38
NC_000006.11:g.89183635_89183638del , CM000668.1:g.89183635_89183638del
GRCh37
NC_000006.10:g.89240354_89240357del
NCBI36
Search 100 bp 5'
Search 100 bp 3'