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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:
CA1092269907
Gene:
Linked Data
gnomAD v3:
6-98102464-TAA-T
gnomAD v4:
6-98102464-TAA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.98102465_98102466del , CM000668.2:g.98102465_98102466del
GRCh38
NC_000006.11:g.98550341_98550342del , CM000668.1:g.98550341_98550342del
GRCh37
NC_000006.10:g.98657062_98657063del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_245563.2:n.456+3195_456+3196del
XR_942809.1:n.456+3195_456+3196del
Search 100 bp 5'
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